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Chapter 35

Structure and Function


of the Digestive System

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Gastro-Intestinal Tract
 Mouth
 Esophagus
 Stomach
 Small intestine
 Large intestine
 Rectum
 Anus

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Gastro-Intestinal Tract (Cont.)

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Gastro-Intestinal Tract (Cont.)
 Ingestion of food
 Propulsion of food and wastes from the mouth to
the anus
 Secretion of mucus, water, and enzymes
 Mechanical digestion of food particles

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Gastro-Intestinal Tract (Cont.)
 Chemical digestion of food particles
 Absorption of digested food
 Elimination of waste products by defecation
 Immune and microbial protection against
infection

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Gastro-Intestinal Tract (Cont.)
 Histology
 Mucosa
 Submucosa
 Muscularis
 Serosa or adventitia
 Enteric plexus

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Gastro-Intestinal Tract (Cont.)

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Mouth
 Reservoir for chewing and mixing of food with
saliva
 Taste buds
 Salty, sour, bitter, and sweet and savoury (umami)

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Salivary Glands
 Three pairs:
 Submandibular
 Sublingual
 Parotid

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Salivary Glands (Cont.)
 Saliva
 Water with mucus, sodium, bicarbonate, chloride,
potassium, and salivary α-amylase (carbohydrate
digestion)
 Controlled by sympathetic and parasympathetic fibres

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Swallowing
 Esophagus
 Peristalsis
 Coordinated sequential contraction and relaxation of outer
longitudinal and inner circular layers of muscles
 Primary and secondary
 Upper esophageal sphincter
 Keeps air from entering the esophagus during respiration
 Lower esophageal sphincter
 Prevents regurgitation from the stomach and caustic injury to the
esophagus

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Swallowing (Cont.)
 Phases
 Oropharyngeal
• Food formed into bolus and forced toward pharynx
• Pharynx contracts
• Respiration inhibited and epiglottis slides down
 Esophageal
• Food bolus enters esophagus
• Esophagus relaxes
• Peristalsis occurs to move food down to lower esophageal
sphincter
• Food bolus enters stomach

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Stomach
 A hollow, muscular organ that stores food,
secretes digestive juices, mixes food with the
juices, and propels partially digested food
(chyme)

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Stomach (Cont.)
 Boundaries:
 Cardiac orifice
 Pyloric sphincter
 Pylorus
 Functional areas:
 Fundus
 Body
 Antrum

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Stomach (Cont.)
 Three layers of smooth muscle:
 Longitudinal (outer)
 Circular (middle)
 Oblique (inner)
 Blood supplied from celiac artery

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Stomach (Cont.)

Modified from Patton, K.T., & Thibodeau, G.A. (2014). The human body in health & disease (6th ed.). St Louis, MO: Mosby.

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Gastric Motility
 Swallowing
 Causes relaxation
 Facilitated by gastrin and cholecystokinin
 Motilin
 Increases peristalsis
 Secretin
 Decreases peristalsis
 Gastric mixing and emptying
 Retropulsion
 Rate dependent on volume, osmotic pressure, and chemical
composition

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Gastric Secretion
 Phases
 Cephalic phase
• Stimulated by the thought, smell, and taste of food
 Gastric phase
• Stimulated by distension of the stomach
 Intestinal phase
• Stimulated by histamine and digested protein

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Gastric Secretion (Cont.)
 Stimulation of gastric secretion
 Eating
 Gastrin
 Paracrine pathways
 Acetylcholine
 Chemicals
• Ethanol, coffee, protein

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Gastric Secretion (Cont.)
 Stomach secretes large volumes of gastric
juices
 Mucus
 Acid
 Enzymes
 Hormones
 Intrinsic factor
 Gastroferrin

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Gastric Secretion (Cont.)
 Acid
 Secreted by parietal cells
 Dissolves food fibres, acts as a bactericide against
swallowed micro-organisms, and converts
pepsinogen to pepsin
 Pepsin
 Secreted by chief cells
 Proteolytic enzyme
• Breaks down protein and forms polypeptides in the stomach

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Gastric Secretion (Cont.)
 Mucus
 Stimulated by prostaglandins
 Mucosal barrier
 Gastric mucosal blood flow

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Gastric Pits and Gastric Glands

From Patton, K.T., Thibodeau, G.A., & Douglas, M.M. (2012). Essentials of anatomy and physiology. St Louis, MO: Mosby.

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Small Intestine
 5 to 6 m long
 Three segments
 Duodenum
 Jejunum
 Ileum
• Ileocecal valve

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Small Intestine (Cont.)
 Peritoneum
 Membrane surrounding the organs of the abdomen
and pelvic cavity
 Visceral
 Parietal
 Peritoneal cavity

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Small Intestine (Cont.)
 Duodenum
 Supplied by gastroduodenal artery
 Jejunum and ilium
 Supplied by superior mesenteric artery

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Small Intestine (Cont.)
 Innervated by enteric nerves
 Myenteric (Auerbach) plexus
 Submucosal (Meissner) plexus
 Two layers of smooth muscle
 Longitudinal (outer)
 Circular (inner)

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Small Intestine (Cont.)
 Absorption through villi
 Microvilli
 Brush border
 Lamina propria
 Lacteal
 Crypts of Lieberkühn

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Small Intestine (Cont.)

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Intestinal Digestion and Absorption
 Initiated in stomach
 Actions of gastric hydrochloric acid and pepsin
 Continues in proximal portion of small intestine
 Action of pancreatic enzymes, intestinal enzymes,
and bile salts
• Carbohydrate breakdown
• Proteins degraded
• Fats emulsified
 Nutrients absorbed by active transport, diffusion,
or facilitated diffusion

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Intestinal Motility
 Movements of the small intestine facilitate both
digestion and absorption
 Haustral segmentation
 Peristalsis
 Ileogastric reflex
 Intestinointestinal reflex
 Gastroileal reflex
 Ileocecal valve

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Large Intestine
 Cecum
 Pouch that receives chyme from the ileum
 Vermiform appendix
 Colon
 Ascending
 Transverse
 Descending
 Sigmoid
 Rectum
 Anus

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Large Intestine (Cont.)

Modified rom Patton, K.T., & Thibodeau, G.A. (2014). The human body in health and disease (6th ed.). St Louis, MO:
Mosby.

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Large Intestine (Cont.)
 Ileocecal valve
 O’Beirne (rectosigmoid) sphincter
 Internal anal sphincter
 External anal sphincter
 Teniae coli
 Three longitudinal bands in the longitudinal muscle
layer of the cecum and colon
 Shorter than the colon and gives it a gathered
appearance
 Haustra

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Large Intestine (Cont.)
 Motor and secretory activity regulated by enteric
nervous system
 Vagal stimulation increases rhythmic contraction
of the proximal colon
 Blood supply is derived primarily from branches
of the superior and inferior mesenteric arteries

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Large Intestine (Cont.)
 Colonic movement primarily segmental
 Fecal mass massaged
 Water absorbed
 Peristaltic movements promote the emptying of the
colon
 Gastrocolic reflex
• Causes the fecal mass to pass rapidly into the sigmoid colon
and rectum
 Defecation reflex
• Stimulated by the movement of feces into the sigmoid colon
and rectum

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Gastro-Intestinal Absorption

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Immunity and the GI System
 Major role in immune defences by killing many
micro-organisms
 Mucosal secretions produce antibodies (IgA).
 Paneth cells produce defensins and other antibiotic
peptides and lysozymes important to mucosal
immunity.
 Peyer patches (collections of lymphocytes, plasma
cells, and macrophages) produce immunoglobulin A
as a component of the gut-associated lymph tissue in
the small intestine.

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Intestinal Microbiome
 Numbers of bacteria increase from proximal to
distal GI tract
 Highest in colon
 Multiple factors affect normal composition of
bacterial flora
 Genetics, diet, environmental, medications
 Alert immune system to protect against infection

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Intestinal Microbiome (Cont.)
 Intestinal tract
 Sterile at birth but colonized within a few hours
 Number and diversity of bacteria decrease with aging
 Bacteria in stomach are relatively sparse
• Acid kills ingested pathogens and inhibits bacterial growth
 Low concentration of aerobes in duodenum and
jejunum
• Suppressed by bile acid, intestinal motility, and antibodies
 Anaerobes found distal to ileocecal valve but not
proximal to the ileum

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Splanchnic Blood Flow
 Provides blood flow to:
 Esophagus
 Stomach
 Small and large intestine
 Liver
 Gallbladder
 Pancreas
 Spleen
 Important reservoir of blood volume

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Accessory Organs of Digestion

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Accessory Organs
of Digestion (Cont.)
 Liver
 Divided into right and left lobes
• Right lobe further divided into the caudate and quadrate
lobes
 Falciform ligament
 Round ligament
 Coronary ligament
 Glisson capsule

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Liver

From Applegate, E. (2011). The anatomy and physiology learning system (4th ed.). St Louis, MO: Saunders.

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Accessory Organs of Digestion
 Liver
 Hepatic artery
 Hepatic portal vein

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Hepatic Portal Circulation

From Herlihy, B. (2015). The human body in health and illness (5th ed.). St Louis, MO:
Saunders

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Liver
 Liver lobules
 Hepatocytes
• Functional cells of the liver
 Sinusoids
 Bile canaliculi
 Common bile duct
 Ampulla of Vater
 Major duodenal papilla (sphincter of Oddi)

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Liver (Cont.)
 Kupffer cells
 Tissue macrophages important for healing of liver injury
 Stellate cells
 Contractile in liver injury, contain retinoids, remove foreign
substances from blood
 Natural killer cells
 Produce interferon-γ and are important in tumour defence
 Disse space
 Drains interstitial fluid into the hepatic lymph system

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Secretion of Bile
 Bile is an alkaline, bitter-tasting, yellowish green
fluid that contains bile salts, cholesterol,
bilirubin, electrolytes, and water
 Formed by hepatocytes and secreted into the
bile canaliculi
 Enterohepatic circulation
 Recycling of bile salts

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Enterohepatic Circulation

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Bile
 Two fractional components
 Acid dependent
 Acid independent
 Primary bile acids
 Cholic
 Chenic (chenodeoxycholic)
 Secondary bile acids
 Deoxycholic
 Lithocholic
 Primary and secondary bile acids together form the bile
acid pool

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Metabolism of Bilirubin
 Bilirubin is a by-product of the destruction of
aged red blood cells
 Bilirubin gives bile a greenish black colour and
produces the yellow tinge of jaundice
 Unconjugated bilirubin
 Conjugated bilirubin
 Urobilinogen

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Metabolism of Bilirubin (Cont.)

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Vascular and
Hematological Liver Functions
 Stores blood
 Hemostatic functions
 Synthesizes clotting factors
• Because bile salts are needed for reabsorption of fats,
vitamin K absorption depends on adequate bile production in
the liver

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Liver Functions
 Metabolism of nutrients
 Fats
 Proteins
 Carbohydrates
 Metabolic detoxification
 Storage of minerals and vitamins

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1. Which assists in the removal of foreign
substances and traps bacteria in the liver
sinusoids?

A. Hepatocytes
B. Liver lobules
C. Kupffer cells
D. Disse space

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Gallbladder
 Saclike organ that lies on the inferior surface of
the liver
 Function is to store and concentrate bile
between meals
 Holds about 90 mL of bile
 Begins to contract 30 minutes after eating under
the influence of the vagus nerve and
cholecystokinin

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Exocrine Pancreas
 Exocrine pancreas is composed of acinar cells
that secrete enzymes and networks of ducts that
secrete alkaline fluids to assist in digestion
 Pancreatic duct (Wirsung duct)
 Ampulla of Vater
 Arterial blood is supplied by branches of the celiac
and superior mesenteric arteries
 Venous blood leaves through tributaries to the portal
vein and through the splenic vein

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Exocrine Pancreas (Cont.)
 Secretions
 Isotonic
 Contain potassium, sodium, bicarbonate, and chloride
 Enzymes
 Hydrolyze proteins, carbohydrates, and fats
 Include trypsin, chymotrypsin, carboxypeptidase, and
elastase
 Secreted in inactive forms

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Exocrine Pancreas (Cont.)
 Trypsin inhibitor
 Prevents the activation of proteolytic enzymes while
they are in the pancreas
 Enterokinase
 Secreted by the duodenal mucosa
 Activates inactive enzymes

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2. Bile is produced by which organ?

A. Liver
B. Pancreas
C. Gallbladder
D. Small intestine

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Case Study
A 28-year-old pregnant woman is seen in her obstetrician’s office
for a routine appointment during her 30th week of gestation. This
is her second pregnancy, and she has been feeling tired. The
baby is measuring large for gestational age, and she states that
the baby has been giving her heartburn. She is craving spicy,
Mexican food and cannot get enough of chips and salsa. The
obstetrician reminds the young woman that she still has
approximately 10 weeks until delivery. He reminds her to
continue to take her vitamins and iron supplements and to cut
back on the spicy foods, especially before bedtime, to decrease
the incidence of heartburn or gastroesophageal reflux.

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Case Study:
Discussion Questions
 In the digestive system, the stomach is stimulated by eating to
produce large volumes of gastric secretions.

1. The secretion of what substance is responsible for


converting pepsinogen to pepsin and acts as a bactericide
against swallowed organisms?

A. Gastroferrin
B. Hydrochloric acid
C. Intrinsic factor
D. Chymotrypsin

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Case Study:
Discussion Questions (Cont.)
2. The enteric nervous system regulates intestinal
motility. Of the two movements that promote
motility, what one occurs more frequently?

A. Segmentation
B. Peristalsis
C. Vagal stimulation
D. Neural reflex

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Chapter 36

Alterations of Digestive Function

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Clinical Manifestations of
Gastro-Intestinal Dysfunction
 Anorexia
 Lack of a desire to eat despite physiological stimuli
that would normally produce hunger
 Vomiting
 Forceful emptying of the stomach and intestinal
contents through the mouth
 Several types of stimuli initiate the vomiting reflex
 Common symptoms of vomiting are hypersalivation
and tachycardia

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Clinical Manifestations of Gastro-
Intestinal Dysfunction (Cont.)
 Nausea
 Subjective experience that is associated with a
number of conditions
 Retching
 Nonproductive vomiting

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Clinical Manifestations of Gastro-
Intestinal Dysfunction (Cont.)
 Projectile vomiting
 Spontaneous vomiting that does not follow nausea or
retching

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Clinical Manifestations of Gastro-
Intestinal Dysfunction (Cont.)
 Constipation
 Infrequent or difficult defecation
 Primary condition
• Normal transit (functional)
• Slow transit
• Pelvic floor or outlet dysfunction

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Clinical Manifestations of Gastro-
Intestinal Dysfunction (Cont.)
 Secondary condition
• Caused by many different factors such as diet, medications,
various disorders, aging
 Manifestations
• Straining with defecation
• Hard stools
• Sensation of incomplete emptying
• Manual manoeuvres to facilitate stool evacuation
• Fewer than three bowel movements per week
 Manage underlying disease

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Clinical Manifestations of Gastro-
Intestinal Dysfunction (Cont.)
 Diarrhea
 Presence of loose, watery stools
• Acute or persistent
 Large-volume diarrhea
• Caused by excessive amounts of water or secretions or both
in the intestines
 Small-volume diarrhea
• Volume of feces is not increased, usually results from
excessive intestinal motility

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Clinical Manifestations of Gastro-
Intestinal Dysfunction (Cont.)
 Major mechanisms of diarrhea
• Osmotic diarrhea
• Secretory diarrhea
• Motility diarrhea
 Systemic effects
• Dehydration
• Electrolyte imbalance
• Weight loss
 Associated with malabsorption syndromes
 Treated with fluid restoration, antimotility or water-
absorbent medications, treatment of causal factors

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Clinical Manifestations of Gastro-
Intestinal Dysfunction (Cont.)
 Abdominal pain
 Mechanical, inflammatory, or ischemic
 Usually associated with tissue injury and inflammation
 Parietal
 Visceral
 Referred

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Clinical Manifestations of Gastro-
Intestinal Dysfunction (Cont.)
 Gastro-intestinal bleeding
 Upper gastro-intestinal bleeding
• Esophagus, stomach, or duodenum
 Lower gastro-intestinal bleeding
• Jejunum, ileum, colon, or rectum
 Occult bleeding
 Physiological response depends on rate and amount
of blood loss

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Clinical Manifestations of Gastro-
Intestinal Dysfunction (Cont.)
 GI bleeding

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Disorders of Motility
 Dysphagia
 Difficulty swallowing
• Mechanical obstructions
• Functional disorders
 Achalasia
• Related to loss of inhibitory neurons in the myenteric plexus
with smooth muscle atrophy in the middle and lower portions
of the esophagus

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Achalasia

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Disorders of Motility
 Dysphagia
 Manifestations
• Stabbing pain at the level of obstruction
• Discomfort after swallowing
• Regurgitation of undigested food
• Unpleasant taste sensation
• Vomiting
• Aspiration
• Weight loss
 Symptoms managed by eating small meals slowly, taking
fluid with meals, and sleeping with the head elevated to
prevent regurgitation and aspiration

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Disorders of Motility (Cont.)
 Gastroesophageal reflux disease (GERD)
 Reflux of acid and pepsin from the stomach to the
esophagus that causes esophagitis
 Resting tone of the LES tends to be lower than
normal
 Conditions that increase abdominal pressure or delay
gastric emptying can contribute to the development of
reflux esophagitis

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Disorders of Motility (Cont.)
 Manifestations
• Heartburn
• Acid regurgitation
• Dysphagia
• Chronic cough
• Asthma attacks
• Laryngitis
• Upper abdominal pain within 1 hour of eating
 Proton pump inhibitors are the agents of choice for
controlling symptoms and healing esophagitis

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Disorders of Motility (Cont.)
 Hiatal hernia
 Diaphragmatic hernia with protrusion of the upper part
of the stomach through the diaphragm and into the
thorax
• Sliding
• Paraesophageal
• Mixed
 Conservative treatment

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Hiatal Hernia

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Disorders of Motility
 Gastroparesis
 Delayed gastric emptying in the absence of
mechanical gastric outlet obstruction
 Associated with diabetes mellitus, surgical vagotomy,
or fundoplication
 Symptoms include nausea, vomiting, abdominal pain,
and postprandial fullness or bloating

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Disorders of Motility (Cont.)
 Pyloric obstruction
 Blocking or narrowing of the opening between the stomach
and the duodenum
 Acquired or congenital
 Manifestations
• Epigastric pain and fullness
• Nausea
• Succussion splash
• Vomiting
• With a prolonged obstruction: malnutrition, dehydration, and
extreme debilitation
 Usually conservative management

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Disorders of Motility (Cont.)
 Intestinal obstruction and paralytic ileus
 Intestinal obstruction is any condition that prevents
the flow of chyme through the intestinal lumen
• Simple obstruction
 Mechanical blockage of the lumen
• Functional obstruction (paralytic ileus)
 Failure of intestinal motility
 Often occurs after intestinal or abdominal surgery, pancreatitis,
or hypokalemia

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Intestinal Obstruction

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Disorders of Motility
 Intestinal obstruction and paralytic ileus
 Signs of small intestinal obstruction
• Colicky pains
• Nausea and vomiting
 Signs of large intestinal obstruction
• Hypogastric pain and abdominal distension

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Gastritis
 Inflammatory disorder of the gastric mucosa
 Acute gastritis
 Caused by injury of the protective mucosal barrier
 Chronic gastritis
 Chronic fundal gastritis (type A, immune)
 Chronic antral gastritis (type B, nonimmune)
 Symptoms vague

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Peptic Ulcer Disease
 Break or ulceration in the protective mucosal
lining of the lower esophagus, stomach, or
duodenum
 Acute and chronic ulcers
 Superficial
 Erosions
 Deep
 Zollinger-Ellison syndrome

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Peptic Ulcer Disease (Cont.)
 Duodenal ulcers
 Most common of the peptic ulcers
 Developmental factors:
• Helicobacter pylori infection
• Hypersecretion of stomach acid and pepsin
• Use of NSAIDs
 Characterized by intermittent pain in the epigastric
area
• Relieved rapidly by ingestion of food or antacids
 Management aimed at relieving the causes and
effects of hyperacidity and preventing complications

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Duodenal Ulcer

C, Courtesy David Bjorkman, MD, University of Utah School of Medicine, Department of


Gastroenterology, Salt Lake City, UT.

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Gastric Ulcer
 Gastric ulcers tend to develop in the antral
region of the stomach, adjacent to the acid-
secreting mucosa of the body
 Pathophysiology
 Primary defect is an increased mucosal permeability
to hydrogen ions
 Gastric secretion tends to be normal or less than
normal
 Manifestations and treatment similar to duodenal
ulcers except food causes pain

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Gastric Ulcer (Cont.)

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Stress-Related Mucosal Disease
 Acute form of peptic ulcer that is related to
severe illness or major trauma
 Ischemic ulcers
• Within hours of trauma, burns, hemorrhage, heart failure, or
sepsis
 Curling ulcers
• Develop as a result of burn injury
 Cushing ulcers
• Develop as a result of a brain injury or brain surgery

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Surgical Treatment of Ulcer
 Most common indications are recurrent or
uncontrolled bleeding and perforation of the
stomach or duodenum.
 Objectives are to reduce stimuli for acid
secretion, decrease the number of acid-
secreting cells in the stomach, and correct
complications of ulcer disease.

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Postgastrectomy Syndromes
 Dumping syndrome
 Alkaline reflux gastritis
 Afferent loop obstruction
 Diarrhea
 Weight loss
 Anemia
 Bone and mineral disorders

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1. A patient undergoes gastric resection. Following
surgery, she experiences intermittent severe pain
and epigastric fullness after eating. Which factor is
the most likely reason for her symptoms?

A. Diarrhea
B. Dumping syndrome
C. Alkaline reflux gastritis
D. Afferent loop obstruction

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Malabsorption Syndromes
 Maldigestion
 Failure of the chemical processes of digestion
 Malabsorption
 Failure of the intestinal mucosa to absorb digested
nutrients
 Maldigestion and malabsorption frequently occur
together

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Malabsorption Syndromes (Cont.)
 Pancreatic exocrine insufficiency
 Insufficient pancreatic enzyme production
• Lipase, amylase, trypsin, or chymotrypsin
 Causes
• Pancreatitis
• Pancreatic carcinoma
• Pancreatic resection
• Cystic fibrosis
 Fat maldigestion is the main problem, so the patient
will exhibit fatty stools and weight loss

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Malabsorption Syndromes (Cont.)
 Lactase deficiency
 Inability to break down lactose into monosaccharides
and therefore prevents lactose digestion and
absorption
 Fermentation of lactose by bacteria causes gas
(cramping pain, flatulence, etc.) and osmotic diarrhea

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Malabsorption Syndromes (Cont.)
 Bile salt deficiency
 Conjugated bile salts needed to emulsify and absorb
fats
 Bile salts are conjugated in the bile that is secreted
from the liver
 Can result from liver disease and bile obstructions
 Poor intestinal absorption of lipids causes fatty stools
(steatorrhea), diarrhea, and loss of fat-soluble
vitamins (A, D, E, K)

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Malabsorption Syndromes (Cont.)
 Fat-soluble vitamin deficiencies:
 Vitamin A
• Night blindness
 Vitamin D
• Decreased calcium absorption
• Bone pain
• Osteoporosis
• Fractures
 Vitamin K
• Prolonged prothrombin time
• Purpura
• Petechiae
 Vitamin E
• Uncertain

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Inflammatory Bowel Disease
 Ulcerative colitis (UC) and Crohn’s disease (CD)
 Chronic, relapsing inflammatory bowel disorders
• Genetics
• Environmental factors
• Alterations of epithelial barrier functions
• Altered immune reactions to intestinal flora

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Ulcerative Colitis
 Chronic inflammatory disease that causes
ulceration of the colonic mucosa
 Sigmoid colon and rectum
 Begins in the rectum and may extend proximally to
the entire colon
 Intermittent periods of remission and exacerbation

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Ulcerative Colitis (Cont.)
 Symptoms:
 Diarrhea (10 to 20/day)
 Urgency
 Bloody stools
 Cramping
 Treatment
 Mild to moderate disease treated with 5-aminosalicyclate
therapy followed by steroids
 Thioprine and immunomodulatory agents or vedolizumab
used for serious disease
 Surgery for severe disease

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Crohn’s Disease
 Granulomatous colitis, ileocolitis, or regional
enteritis
 Idiopathic inflammatory disorder; affects any part
of the digestive tract, from mouth to anus

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Crohn’s Disease (Cont.)
 Causes “skip lesions”
 One side of the intestinal wall may be affected
and not the other
 Ulcerations can produce fissures that extend
into the lymphatics
 Symptoms similar to ulcerative colitis
 Anemia may result from malabsorption of
vitamin B12 and folic acid
 Treatment similar to ulcerative colitis

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Microscopic Colitis
 Relatively common cause of diarrhea
 Primarily in females and older adults
 Two forms
 Lymphocytic
 Collagenous
 Cause unknown
 Results in chronic daily watery diarrhea

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Irritable Bowel Syndrome (IBS)
 Symptom-based disease characterized by
recurrent abdominal pain with altered bowel
habits
 More common in females
 Associated with anxiety, depression, and
reduced quality of life

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Irritable Bowel
Syndrome (IBS) (Cont.)
 Cause unknown but mechanisms proposed:
 Visceral hypersensitivity
 Abnormal intestinal permeability, motility, and
secretion
 Postinflammatory
 Alteration in gut microbiota
 Food allergy/intolerance
 Psychosocial factors

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Irritable Bowel
Syndrome (IBS) (Cont.)
 Manifestations
 Lower abdominal pain or discomfort and bloating
 Symptoms are usually relieved with defecation
and do not interfere with sleep
 No cure, and treatment is individualized

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Diverticular Disease of the Colon
 Diverticula
 Herniations of mucosa through the muscle layers of
the colon wall, especially the sigmoid colon
 Diverticulosis
 Asymptomatic diverticular disease
 Diverticulitis
 Inflammatory stage of diverticulosis

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Diverticular Disease
of the Colon (Cont.)
 Diverticula can occur anywhere in the gastro-
intestinal tract, particularly at weak points in the
colon wall.
 Complicated diverticulitis includes abscess,
fistula, obstruction, bleeding, or perforation.
 Symptoms of uncomplicated diverticular disease
may be vague or absent.

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Appendicitis
 Inflammation of the vermiform appendix
 Possible causes:
 Obstruction, foreign bodies, infection
 Gastric or periumbilical pain
 Rebound tenderness to RLQ
 Perforation, peritonitis, and abscess formation
are the most serious complications

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Mesenteric Vascular Insufficiency
 Blood supply to the stomach and intestine
 Celiac artery
 Superior and inferior mesenteric arteries
 Mesenteric venous thrombosis
 Acute mesenteric artery insufficiency
 Chronic mesenteric ischemia

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Obesity
 Increase in body fat mass
 Body mass index (BMI) >30 kg/m2
 Associated with higher all-cause mortality
 Generally develops when caloric intake exceeds
caloric expenditure
 Major risk factor for morbidity, death, and high
health care costs

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Obesity (Cont.)
 Interaction of peripheral and central pathways
and numerous cytokines, hormones, and
neurotransmitters
 Signalling mediators act on hypothalamus and
brainstem to regulate hunger and satiety
 Leptin
 Ghrelin
 Adiponectin
 Peptide YY

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Obesity (Cont.)
 Two different forms of adipose tissue distribution
 Visceral obesity
• Distribution of body fat is localized around the abdomen and
upper body
• “Apple shape”
 Peripheral obesity
• Distribution of body fat is extraperitoneal and distributed
around the thighs and buttocks
• “Pear shape”

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Obesity (Cont.)
 Normal weight obesity (NWO)
 Normal body weight and BMI with percent of body fat
>30%
 Metabolically healthy obesity (MHO)
 Obese but have no metabolic-obesity associated
complications and decreased risk for morbidity and
mortality
 Weight loss (bariatric) surgery is the most
effective treatment for decreasing obesity-
related morbidity

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Malnutrition and Starvation
 Malnutrition
 Lack of nourishment from inadequate amounts of
calories, protein, vitamins, or minerals
 Starvation
 Decreased energy intake leading to weight loss
 Short-term starvation
• Glycogenolysis
• Gluconeogenesis
 Long-term starvation
• Refeeding syndrome
 Cachexia

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Liver Disorders
 Portal hypertension
 Abnormally high blood pressure in the portal venous
system caused by resistance to portal blood flow
• Intrahepatic
• Posthepatic

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Liver Disorders (Cont.)
 Varices
• Lower esophagus
• Stomach
• Abdominal wall
• Rectum
 Splenomegaly
• Hepatopulmonary syndrome
• Portopulmonary syndrome
 Vomiting of blood from bleeding esophageal varices is
the most common clinical manifestation

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Varices

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Liver Disorders
 Ascites
 Accumulation of fluid in the peritoneal cavity
 Most common cause is cirrhosis
 Development associated with:
• Portal hypertension
• Decreased synthesis of albumin by the liver
• Splanchnic vasodilation
• Renal sodium and water retention
 25% mortality in 1 year if associated with cirrhosis
 Causes abdominal distention and increased abdominal girth and
weight gain
 Paracentesis

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Liver Disorders (Cont.)
 Hepatic encephalopathy
 Neurological syndrome of impaired behavioural,
cognitive, and motor function
 Develops rapidly during fulminant hepatitis or slowly
during course of liver disease
 Cells in the nervous system are vulnerable to
neurotoxins absorbed from the GI tract that, because
of liver dysfunction, circulate to the brain

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Liver Disorders (Cont.)
 Early symptoms
• Subtle changes in personality, memory loss, irritability,
disinhibition, lethargy, and sleep disturbances
 Later symptoms
• Confusion, disorientation to time and space, flapping tremor
of the hands (asterixis), slow speech, bradykinesia, stupor,
convulsions, and coma

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Liver Disorders (Cont.)
 Jaundice (icterus)
 Caused by hyperbilirubinemia
 Obstructive jaundice
• Extrahepatic
• Intrahepatic
 Hemolytic jaundice
• Prehepatic jaundice
• Excessive hemolysis of red blood cells
 Characterized by dark urine, yellow discolouration of
sclera and skin, and light-coloured stools

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Jaundice

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Hepatorenal Syndrome
 Functional kidney failure that develops as a
complication of advanced liver disease
 Type 1
 Type 2
 Manifestations include oliguria and
complications of advanced liver disease
 May be acute or gradual onset

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Acute Liver Failure
 Rare clinical syndrome resulting in severe
impairment or necrosis of liver cells without pre-
existing liver disease or cirrhosis
 Acetaminophen overdose is common cause

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Cirrhosis
 Irreversible inflammatory, fibrotic liver disease
 Biliary channels become obstructed and cause
portal hypertension
 Severity and rate of progression depend on the
cause
 Many causes

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Cirrhosis (Cont.)

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Alcoholic Liver Disease
 Related to toxic effects of alcohol and coexisting
liver disease
 Alcoholic fatty liver
 Alcoholic steatohepatitis
 Alcoholic cirrhosis
 Anorexia, nausea, jaundice, and edema develop
with advanced fatty infiltration or the onset of
alcoholic steatohepatitis

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Nonalcoholic Fatty Liver Disease
and Nonalcoholic Steatohepatitis
 Nonalcoholic fatty liver disease (NAFLD)
 Infiltration of hepatocytes with fat occurring in the
absence of alcohol intake
 May progress to nonalcoholic steatohepatitis (NASH),
which may progress to cirrhosis and end-stage liver
disease

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Biliary Cirrhosis
 Damage and inflammation leading to cirrhosis
begin in bile canaliculi and bile ducts
 Primary
 Secondary

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Viral Hepatitis
 Systemic viral disease that primarily affects the
liver
 Five types (A, B, C, D, and E)
 Can cause acute, icteric illness
 Spectrum of manifestations ranges from
absence of symptoms to fulminating hepatitis,
with rapid onset of liver failure and coma

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Viral Hepatitis (Cont.)
 Phases
 Incubation
 Prodromal
 Icteric
 Recovery
 Chronic active hepatitis

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Disorders of the Gallbladder
 Obstruction or inflammation (cholecystitis) most
common cause of gallbladder problems
 Cholelithiasis—gallstone formation
 Risks
• Obesity
• Middle age
• Female
• Oral contraceptive use
• Rapid weight loss
• First Nations ancestry
• Genetic predisposition
• Gallbladder, pancreas, or ileal disease

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Disorders of the Gallbladder (Cont.)
 Gallstones
 Formed from impaired metabolism of cholesterol, bilirubin,
and bile acids
 Type depends on chemical composition
• Cholesterol
 Formed from bile that is supersaturated with cholesterol
produced by the liver
• Pigmented brown
 Formed from calcium bilirubinate and fatty acid soaps that bind
with calcium
• Black
 Composed of calcium bilirubinate with mucin glycoproteins
 Associated with chronic liver disease and hemolytic disease

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Disorders of the Gallbladder (Cont.)
 Often asymptomatic or vague
 Epigastric and right hypochondrium pain
 Intolerance to fatty foods

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Gallstones

From Kissane, J.M. (Ed.). (1990). Anderson’s pathology (9th ed.). St Louis, MO: Mosby.

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Disorders of the Gallbladder
 Cholecystitis
 Almost always caused by a gallstone lodged in the
cystic duct
 Pain is similar to that caused by gallstones
 Fever, leukocytosis, rebound tenderness, and
abdominal muscle guarding are common findings

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2. Which is TRUE regarding cholelithiasis?

A. Risk factors include male gender


B. Incidence is well known and documented
C. Cholesterol stones are the most common
D. Prevalent in underdeveloped countries

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Disorders of the Pancreas
 Pancreatitis
 Inflammation of the pancreas
 Develops because of obstruction to the outflow of
pancreatic digestive enzymes caused by bile and
pancreatic duct obstruction

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Disorders of the Pancreas (Cont.)
 Acute pancreatitis  Chronic pancreatitis
 Usually mild and resolves  Process of progressive
spontaneously fibrotic destruction of the
 May result from direct pancreas
cellular injury from alcohol,  Related to chronic alcohol
medications, or viral abuse
infection  Continuous or intermittent
 Cardinal manifestation is abdominal pain and weight
constant epigastric or loss are common
midabdominal pain  Risk factor for pancreatic
cancer

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Cancer of the
Gastro-Intestinal Tract
 Esophagus
 Squamous cell carcinoma
 Adenocarcinoma
 Risk factors include chronic alcohol use combined
with smoking or chewing tobacco, hot and irritant
(alcohol) drinks, food containing nitrosamines, and
achalasia
 Frequent symptoms are chest pain and dysphagia

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Cancer of the Gastro-
Intestinal Tract (Cont.)
 Stomach
 Associated with atrophic gastritis and Helicobacter
pylori
 Sporadic and associated with consumption of heavily
salted and preserved foods, low intake of fruits and
vegetables, and use of tobacco and alcohol
 Vague symptoms early such as loss of appetite,
malaise, and indigestion
 Later symptoms of unexplained weight loss, upper
abdominal pain, vomiting, change in bowel habits,
and anemia

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Cancer of the Gastro-
Intestinal Tract (Cont.)
 Colon and rectum
 Most are sporadic or associated with a family history
of colorectal cancer
 Caused by multiple gene alterations and
environmental interactions
• Familial adenomatous polyposis
• Hereditary nonpolyposis
 Colorectal polyps
 Neoplastic polyps
 Symptoms depend on the location, size, and shape of
the lesion and are silent in the early stages

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Colon Cancer
 Signs and symptoms

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Cancer of the Accessory
Organs of Digestion
 Liver
 Usually caused by metastatic spread from a primary
site elsewhere in the body
 Hepatocellular carcinoma
• Usually asymptomatic
 Cholangiocellular carcinoma
• Commonly presents insidiously as pain, loss of appetite,
weight loss, and gradual onset of jaundice

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Cancer of the Accessory
Organs of Digestion (Cont.)
 Gallbladder
 Usually caused by metastasis
 Chronic inflammation may trigger dysplasia and
progress to metaplasia
 Early stages usually asymptomatic
 Usually caught in late stages

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Cancer of the Accessory
Organs of Digestion (Cont.)
 Pancreas
 Ductal adenocarcinomas
• Pancreatic tumours from metaplastic exocrine cells in the
ducts
 Chronic pancreatitis and inflammatory cytokines
support tumour growth
 When symptoms occur, there usually has been a
malignant transformation

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Case Study
A 31-year-old woman visits a gastroenterologist’s
office with complaints of diarrhea. She reports that she
has at least four loose stools per day. An extensive
history is obtained, and the woman is able to provide a
stool sample that day. The stool is bloody with mucus.
Although the sample will be sent to a laboratory for
analysis, the gastroenterologist suggests an
endoscopy and histological studies of biopsied tissue.
She discusses the possible diagnoses, among them
Crohn’s disease and ulcerative colitis.

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Case Study:
Discussion Questions
3. What type of diarrhea is caused by an
inflammatory disorder of the intestine?

A. Secretory
B. Small-volume
C. Motility
D. Large-volume

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Case Study:
Discussion Questions (Cont.)
4. Patients who suffer from ulcerative colitis and
Crohn’s disease have abdominal pain, which is
the result of distension and inflammation. What
type of pain does this describe?

A. Visceral
B. Referred
C. Parietal
D. Somatic

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Chapter 37

Alterations of Digestive
Function in Children

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Cleft Lip and Cleft Palate
 Syndromic
 Occurs as part of chromosomal, mendelian, or
teratogenic syndromes
 Nonsyndromic
 Cleft palate occurring alone
 Embryonic developmental anomalies that vary in
severity
 May be caused by genetic or environmental
influences

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Cleft Lip and Cleft Palate (Cont.)
 Cleft lip
 Caused by the incomplete fusion of the nasomedial or
intermaxillary process during the fourth week of
embryonic development
 Commonly occurs under one nostril, but the defect
can be bilateral and symmetrical or asymmetrical

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Cleft Lip and Cleft Palate (Cont.)
 Cleft palate
 Commonly associated with cleft lip but can occur
without it
 May affect only the uvula and soft palate or may
extend forward to the nostril and involve the hard
palate and the maxillary alveolar ridge

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Cleft Lip and Cleft Palate (Cont.)
 Clinical manifestations
 Immediately recognizable disruptions of normal facial
structure
 Feeding difficulties
 Evaluation and treatment
 Ultrasound and postnatal imaging
 Surgical correction
 Speech training
 Prosthodontist and orthodontist follow-up

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Cleft Lip and Cleft Palate (Cont.)

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Esophageal Atresia
 Esophagus ends in a blind pouch
 Usually accompanied by a tracheoesophageal fistula
 Associated with many anomalies and syndromes
 Environmental and genetic risk factors
 Antenatal diagnosis increases with finding of
polyhydramnios, confirmed by inability to pass gastric
tube after birth

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Esophageal Atresia and
Tracheoesophageal Fistula

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Infantile Hypertrophic
Pyloric Stenosis
 Acquired narrowing and distal obstruction of the
pylorus
 Unclear etiology—likely genetic and
environmental factors
 Forceful, nonbilious vomiting starting 2 to 8
weeks after birth

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Infantile Hypertrophic
Pyloric Stenosis (Cont.)
 Vomiting causes weight loss, electrolyte
imbalances, and dehydration
 Infant irritable as a result of hunger and
esophageal discomfort
 Evaluation and treatment
 Hypertrophic pylorus is palpable in the RUQ
 Standard treatment is pyloromyotomy

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Obstructions of the Duodenum,
Jejunum, and Ileum
 Duodenal obstruction
 Upper abdominal distension, visible peristaltic waves,
decrease in meconium stools, weight loss, persistent
vomiting, and dehydration
 Obstruction may be partial or complete
 “Double bubble” sign
 Jejunal and ilial obstruction
 Atresia, stenosis, megacolon, intussusception, Meckel
diverticulum, intestinal duplication, or strangulated
hernia

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Malrotation
 Small intestine lacks normal posterior
attachment
 Intestine twists upon itself (volvulus)
 Most cases develop during neonatal period

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Malrotation (Cont.)
 Clinical manifestations
 Intermittent or persistent bile-stained vomiting
 Dehydration and electrolyte imbalances
 Fever, pain, scanty stools, diarrhea, and bloody stools
 Evaluation and treatment
 Clinical manifestations and x-rays
 Laparoscopic or open surgery to reduce volvulus

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Meckel Diverticulum
 Outpocketing of all layers of the small intestinal
wall (usually in the ileum)
 “Rule of 2s”
 Most asymptomatic
 Most common symptom is painless rectal
bleeding
 Intestinal obstruction, intussusception, and
volvulus can occur

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Meconium Syndromes
 Meconium is a substance that fills the intestine
before birth
 Meconium ileus (MI)
 Meconium-caused intestinal obstruction in a newborn
 Two types
• Simple
• Complex
 Complex MI is a surgical emergency

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Meconium Syndromes (Cont.)
 Meconium plug syndrome
 Transient
 Characterized by delayed passage of meconium and
intestinal dilatation
 Meconium disease
 Associated with severe prematurity and low birth
weight
 Bowel obstruction from highly sticky meconium and
poor intestinal motility

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Meconium Syndromes (Cont.)
 Distal intestinal obstruction syndrome
 Characterized by complete or incomplete intestinal
obstruction of viscid fecal accumulation in the terminal
ileum and proximal colon

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Meconium Syndromes (Cont.)
 Pathophysiology
 Terminal ileum plugged with thick, viscous meconium
resulting from the formation of an insoluble, calcium-
glycoprotein compound in abnormal mucus
 Peristalsis fails to propel this viscous material through
the ileum, and it becomes impacted
 Manifested by abdominal distension shortly after
birth, followed by vomiting
 Diagnosed by radiographical examination
 Usually relieved by intestinal lavage and laxatives

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Idiopathic Intestinal
Pseudo-obstruction
 Disorder of impaired intestinal motility
 Pseudo-obstruction is caused by nerve or
peristaltic muscle dysfunction
 Manifested by abdominal swelling or bloating,
crampy abdominal pain, nausea, vomiting,
constipation, or diarrhea
 Treated with intestinal decompression,
nutritional support, symptom management

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Hirschsprung’s Disease
 Also referred to as aganglionic megacolon
 Caused by the failure of the parasympathetic
nervous system to form intramural ganglion cells
in the enteric nerve plexuses
 Abnormally innervated colon impairs fecal
movements
 Causes colon distension

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Hirschsprung’s Disease (Cont.)
 Clinical manifestations
 Mild to severe constipation
 Diarrhea
 Enterocolitis, sepsis, death
 Surgery is the definitive treatment

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Congenital Aganglionic
Megacolon

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Anorectal Malformations
 Anorectal stenosis, imperforate anus, anorectal
atresia, and rectal atresia
 40% of infants born with anorectal malformations
have other developmental anomalies
 Most identified in routine physical examination
 Treated with dilations for stenosis or surgery for
other malformations

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Anorectal Malformations (Cont.)

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Gastroesophageal Reflux (GER)
 Related to dilation of the esophagus and reflux
of stomach contents
 In newborns reflux is normal because
neuromuscular control of the gastroesophageal
sphincter is not fully developed
 Contributing cause of sudden unexpected infant
death (SUID)

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Gastroesophageal
Reflux (GER) (Cont.)
 Clinical manifestations
 Excessive vomiting, food refusal, unexplained crying,
choking, gagging
 Complications include esophagitis, hemorrhage,
stricture, Barrett esophagus
 Evaluation and treatment
 Often diagnosed by clinical manifestations
 Normal physiological GER resolves without treatment

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Intussusception
 Telescoping of a proximal segment of intestine
into a distal segment, causing an obstruction
 Most common scenario is the ileum telescopes into
the cecum and part of the ascending colon by
collapsing through the ileocecal valve
 Causes ischemia and necrosis if not treated

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Intussusception (Cont.)
 Clinical manifestations
 Abdominal pain, irritability, vomiting, and “currant jelly”
stools
 Evaluation and treatment
 Clinical manifestations and ultrasonography
 Reduction with enema
 Surgical reduction

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Intussusception (Cont.)

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Cystic Fibrosis
 Autosomal recessive disease that involves many
organs
 In the digestive tract it causes a blockage of
pancreatic enzymes
 Triad
 Obstruction
 Infection
 Inflammation
 Maldigestion of proteins, carbohydrates, fats, and
fat-soluble vitamins occurs

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Celiac Disease
 Gluten is the protein component in cereal grains
(wheat, rye, barley, malt)
 Appears to be caused by dietary, genetic, and
immunological factors

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Celiac Disease (Cont.)
 Onset of manifestations depends on the age of
the infant when gluten-containing substances
are added to the diet
 Usually by 18 months
 Severity of symptoms varies tremendously
 Celiac crisis
 Diagnosis confirmed with serological
autoantibody measurement
 Gluten-free diet for life

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Celiac Disease (Cont.)
 Treatment is a gluten-restrictive diet, and vitamin
D, iron, and folic acid supplements
 Celiac crisis results in severe diarrhea,
dehydration, malabsorption, and protein loss

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Celiac Disease (Cont.)

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Kwashiorkor and Marasmus
 Types of malnutrition associated with long-term
starvation
 Known collectively as protein-energy
malnutrition (PEM)
 Kwashiorkor is a severe protein deficiency

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Kwashiorkor and Marasmus (Cont.)
 Marasmus is a deficiency of all nutrients
 Stunted physical and mental development of
children
 Liver function
 In kwashiorkor, the lack of proteins causes the liver to
swell because of the inability to produce lipoproteins.
 In marasmus, liver function continues, but the overall
caloric intake is too low to support cellular protein
synthesis.

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Kwashiorkor and Marasmus (Cont.)

Kwashiorkor manifestations Marasmus manifestations


 Appropriate stores of  Greater wasting of protein
protein and fat that are and fat stores
mobilized inadequately  Muscle wasting
 Generalized edema  Fatty liver
 Dermatosis  Hepatomegaly
 Hypopigmented hair  Diarrhea
 Distended abdomen  Dermatosis
 Hepatomegaly  Low hemoglobin
 Almost normal weight  Infection

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Failure to Thrive (FTT)
 Also called growth faltering
 Characterized by inadequate physical development
of an infant or child
 Deceleration in weight gain
 Low weight/height ratio or BMI ratio
 Low weight/height/head circumference ratio
 Multifactorial
 Biological
 Psychosocial
 Environmental

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Necrotizing Enterocolitis
 Ischemic, inflammatory condition that causes
bowel necrosis and perforation
 Most common severe neonatal gastro-intestinal
emergency
 Primarily affects smallest and most premature
infants
 Etiology unclear

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Necrotizing Enterocolitis (Cont.)
 Contributing factors
 Infections
 Abnormal bacterial colonization
 Intestinal ischemia
 Immature immunity
 Exaggerated inflammatory responses
 Immature intestinal motility and barrier function
 Perinatal stress
 Effects of medications and feeding practices
 Genetic predisposition

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Necrotizing Enterocolitis (Cont.)
 Clinical manifestations
 Mild abdominal distension to bowel perforation
 Bloody stools and septicemia
 Evaluation and treatment
 Clinical manifestations, laboratory results, and plain
films of abdomen
 Cessation of feeding, gastric suction, antibiotics, and
surgery

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Diarrhea
 Prolonged diarrhea in children is very dangerous
 Leading cause of death in young children
 Children have lower fluid reserves than adults

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Diarrhea (Cont.)
 Infant diarrhea
 Infectious diarrhea
 Acute infectious diarrhea
 Rotavirus
 Chronic diarrhea

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Primary Lactose Intolerance
 Inability to digest milk sugar
 Caused by the inadequate production of lactase,
the enzyme that catabolizes lactose
 Lactose malabsorption causes
 Osmotic diarrhea
 Abdominal pain
 Bloating
 Flatulence

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Neonatal Jaundice
 Yellow pigmentation of the skin caused by an
increased level of bilirubin in the bloodstream
 Usually becomes clinically apparent when the
serum bilirubin concentration is >34 mcmol/L

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Neonatal Jaundice (Cont.)

Physiological jaundice Pathological jaundice


 Common in healthy newborns  Associated with severe illness
 Caused by lack of maturity of  Risk factors include fetal-
bilirubin uptake and maternal blood type
conjugation incompatibility, premature
 Can be associated with birth, exclusive breast feeding,
hemolytic disease, metabolic maternal age >25 years, male
and endocrine disorders, liver gender, delayed meconium
abnormalities, and infections passage, glucose-6-phosphate
dehydrogenase deficiency, and
excessive birth trauma

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1. Which is TRUE regarding physiological
jaundice of the newborn?

A. Generally chronic
B. Caused by increased red blood cell breakdown
C. Occurs during the first week of life in full-term
infants
D. Caused by indirect bilirubin reading of >200
mcmol/L

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Biliary Atresia
 Congenital malformation characterized by the
absence or obstruction of the intrahepatic or
extrahepatic bile ducts
 Plugging, inflammation, and fibrosis of the bile
canaliculi, and cholestasis
 Jaundice is the primary clinical manifestation
 Liver transplant long-term therapy
 80% die before 3 years of age if untreated

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Hepatitis
 Hepatitis A
 30 to 50% of hepatitis A infections occur in children
 Hepatitis B
 90% of newborns are infected by their mothers
 Hepatitis D infection depends on active infection of HBV
 Hepatitis C
 Associated primarily with blood transfusions
 Chronic hepatitis
 May develop because the infant’s immune system is
immature

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Cirrhosis
 Chronic liver diseases in children can progress
to cirrhosis, but it is infrequent.
 Complications for cirrhosis in children are the
same as adults.
 Children may also experience
 Growth failure
 Nutritional deficits
 Developmental delay

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Portal Hypertension
 Extrahepatic portal hypertension
 Intrahepatic portal hypertension
 Clinical manifestations
 Splenomegaly
 Upper GI bleeding
 Ascites
 Hepatic encephalopathy
 Evaluation and treatment
 Examination, laboratory tests, imaging, and biopsy
 Treatment is same as for adults

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Metabolic Disorders
 Wilson’s disease
 Autosomal recessive defect of copper metabolism
 Causes toxic levels of copper to accumulate in the
liver, brain, kidneys, and corneas
 Galactosemia
 Autosomal recessive trait of deficient galactose-1-
phosphate uridyl transferase
 Causes toxic levels of galactose in body tissues, liver,
and brain

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Metabolic Disorders (Cont.)
 Fructosemia
 Autosomal recessive trait of deficient fructose-1-
phosphate aldolase
 Causes toxic levels of fructose to accumulate in body
tissues

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2. What is an inherited disease associated with
pancreatic enzyme deficiency?

A. Cystic fibrosis
B. Celiac disease
C. Kwashiorkor
D. Biliary atresia

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