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UNIT 7
PART 1
Genetics and Congenital Disorders
PRE-CLASS ACTIVITIES
1. State the number of chromosomes present in a sperm and in an ovum.
Mature sex cells (sperm & ova) have 23 single chromosomes (haploid number) as a result of
meiosis during Spermatogenesis and Oogenesis
3. How does this process lead to the inheritance of genetic characteristics from both
parents?
Each parent contributes one chromosome so that offspring get half of their chromosomes from
their mother and half from their father
Chromosome defect
Error during meiosis (when sex cells formed) DNA fragments are displaced or lost, or an error
resulting in abnormal # of chromosomes (e.g. Down syndrome), thus altering genetic info
May be spontaneous or result from exposure to a damaging substance
Multi-factorial
May be caused by multiple genes or genetic influences combined with environmental factors
Predisposition/hereditary tendency toward a specific disease/disorder when exposed to a specific
factor(s). e.g. type 2 diabetes, cleft palate, colon cancer
b) Developmental
Spontaneous errors or may result from exposure to environmental factors before or during
pregnancy
May be caused by maternal nutrition, radiation exposure, ETOH, cigarettes, drugs, infections,
chemicals (e.g. Cerebral Palsy)
10. What is sickle cell crisis? What are the signs and symptoms? Discuss interventions for
sickle cell crisis.
A severe, painful, acute exacerbation of RBC sickling
Many larger blood vessels may become occluded affecting brain, bones or organs
Most commonly triggered by low oxygen in blood
S & S: severe pain (2 to tissue hypoxia) can last for days weeks
Treatment
o Focus on prevention of crisis and avoidance of situations that cause hypoxia (high
altitudes, resp infections) & other triggers such as strenuous activity, extremes of heat or
cold, dehydration
o Administration of oxygen; ensure adequate hydration (dehydration increase blood
viscosity & sickling)
HEALTH SCIENCES 2 7-1-3
UNIT 7
PART 1
Huntingtons disease
Neurological disorder progressive atrophy of brain, degeneration of neurons (esp. basal ganglia
and frontal cortex). Caused by deficiency of neurotransmitters which leads to an excess of
dopamine
11. State which of the causes in question 5 is the basis for this disease.
Single Gene
13. Because this disease may be asymptomatic until an individual is in his/her thirties,
what are the implications for family planning?
If one parent has the disorder, a child has a 50% chance of inheriting the disorder
Biggest consideration when wanting to have a child
Downs syndrome
Chromosomal disorder in which there are 3 chromosomes rather than 2 on chromosome # 21
called trisomy
14. State which of the causes in question 5 is the basis for this disorder.
Chromosome defect
15. How does maternal age relate to the risk of having a child with Downs syndrome?
Maternal age influences the risk of conceiving a baby /c Down (at age 40, risk is 1/100)
16. Describe the usual characteristics of Downs syndrome under the following headings:
Eyesupward slanting eyes
noseflat
tonguestick out
mouthsmall
earssmall
palmswide, short hands
heightbelow average height
length of extremitiesshorter
heart anatomyrisk for congenital heart disease
mental developmentslower
17. What neurological disorder develops at an early age in individuals with Downs
syndrome?
Alzheimers Disease
Cerebral Palsy (CP)
18. Define cerebral palsy.
A group of disorders that affect the brain and cause some degree of motor impairment beginning
in early infancy
Causes: congenital, developmental; single multiple factors causing brain damage
Can occur before birth, during birth (perinatal) or immediately after birth
19. State which of the causes in question 5 is the basis for this disorder.
Developmental
Cystic Fibrosis
23. Identify the etiology of CF.
Genetic disorder single gene autosomal recessive
o Various mutations of CFTR gene on chromosome 7
o CFTR gene helps create sweat, digestive juices & mucus
o Defect in exocrine glands causes cells lining the lungs, pancreas and other organs to
produce abnormally thick, sticky mucus
25. If both parents are carriers, what are the chances of their child developing CF?
HEALTH SCIENCES 2 7-1-5
UNIT 7
PART 1
Carrier rate of 1 per 25 if both parents are carriers, offspring have a 25% chance of having CF
disease
26. Discuss the pathophysiological effects of CF considering the following systems:
Body system Pathophysiological effect of CF
Endocrine
Reproductive Absence of fine ducts, such as the vas deferens, renders 95% of males
infertile
Woman are made infertile by a dense plug of mucus that blocks sperm from
entering the uterus
Respiratory Thick mucus obstructs airflow in bronchioles and leads to air trapping with
permanent damage to bronchial walls and eventually destruction of lung disease
Stasis of mucus creates excellent medium for bacteria and increasing risk of lower
resp infections (pneumonia) & atelectasis
Initially causes obstructive lung disease; later lung develops fibrosis (scarring);
cor pulmonale (late complication)
28. Describe the signs and symptoms of CF and explain why they occur.
Respiratory
o Chronic cough, copious mucus thick, purulent
o Frequent lung infections
o Hemoptysis
o Later: barrel chest, finger clubbing, dyspnea (COPD)
GI
o Bulky, fatty, foul smelling stools (steatorrhea decreased fat absorption);
o abd distention, abd pain, bloating;
o weight loss & failure to thrive 2 to lack of pancreatic enzymes and bile needed for
digestion and absorption of nutrients and vitamins
salty skin
o high loss of salt through sweating
29. What are the common complications of CF considering the gastrointestinal and respiratory
systems?
30. Why may children with cystic fibrosis suffer from deficiency of vitamins A, D, E, and
K?
Blockage of bile ducts interferes with fat digestion and absorption of fat soluble vitamins
32. Complete the following charts for pharmacological therapy for cystic fibrosis:
Drug Classification(s): Pancreatic Enzymes
Drug Name(s): Pancrelipase, Cotazym
Actions/Effects/Uses Adverse Effects Nursing Considerations
Action: pancreatic Adverse Effects: Assessment:
enzyme needed for Hyperglycemia, monitor input and output
breakdown of substances hypoglycemia, monitor fecal fat
released from the anorexia, nausea, monitor polyuria, polydipsia, polyphagia,
pancreas vomiting, diarrhea, glucose levels
cramping, bloating, assess for allergy to pork
Effects: increases hyperuricuria,
protein, fat, carb hyperuricemia Administration:
digestion PO 500 lipase units/kg/meal
Contraindications: Titrate based on response
Use: exocrine pancreatic Allergy to pork Max 2500 lipase units/kg/meal
secretion insufficiency,
cystic fibrosis, pancreatic Health teaching:
enzyme deficiency teach patient to always take with food
take with 8 oz of water while sitting up only
HEALTH SCIENCES 2 7-1-7
UNIT 7
PART 1