Cystic Fibrosis

Rachel Borich NURS 504-Advanced Pharmacology Liberty University Dr. Rainey

Introduction

CF affects about 30,000 children and adults in the United States (70,000 worldwide) CF occurs 1:3,200 live Caucasian births and 1: 3900 live births of all Americans Average age of diagnosis is at 6 months Median survival age is 33.4 years of age

(Silkworth, Arnold, Harrigan, and Ziger, 2005)

What is Cystic Fibrosis?

Cystic fibrosis (CF) is an autosomal recessive inherited chronic disease that is associated with defective epithelial ion transport . CF is a disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body CF is characterized by abnormal secretions that cause obstructive problems with the respiratory, digestive, and reproductive tracts.

(Silkworth et al., 2005)

Pathophysiology

The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein is located on the 7th chromosome. The CFTR gene makes a protein that controls the movement of salt and water in and out your body’s cells The mutation of the CFTR gene, results in cyclic adenosine monophosphate (cAMP)-which is activated chloride channel present on the surface of epithelial cells. In people with CF the defective CFTR gene interrupts the normal flow of chloride ions, sodium ions and water. In the lungs, exocrine glands, bile ducts, sweat ducts, and vas deferens, disruption of ion and water flux alters secretions, which causes thick sticky mucus and very salty sweat

(McCance and Huether, 2010, p.1336, and Silkworth, 2005)

Pathophysiology

Every person inherits two CFTR genes-one from each parent. Individuals who inherit a faulty CFTR gene from each parent will have cystic fibrosis Children who inherit a faulty CFTR gene from one parent and normal CFTR gene from the other parent will be “CF carriers” Cystic fibrosis carriers usually have no symptoms of cystic fibrosis and live normal lives. Carriers can pass the faulty CFTR gene onto their children.

(Cystic Fibrosis Foundation, 2011)

2011) .Pathophysiology  This image shows how the CFTR genes are inherited (Government.

000 Asians: 1:31.Risk Factors & Prevalence        CF affects both males and females and people of all racial and ethnic groups About 12 million American are carriers of a faulty cystic fibrosis gene Median age of diagnosis is 6 months of age 75% cases are diagnosed by 1 year of age Approximately 10% of cases are not diagnosed until after age of 10 Medial age of survival in the United States is 36. 2011) . Approximately 30.000 Whites: 1:3.200 (McCance and Huether.000 worldwide manifest the disease    Blacks: 1:15.5 years of age. 2010 and Cystic Fibrosis Foundation.000 individuals in the United States and 70.

mortality rates correlates respectively with the classification (McCance and Huether. 1337) . 2010.Classification     Mutations of the CFTR gene have been classified based on the type of defect Classes 1 through 3 are associated with more severe symptoms of respiratory disease Classes 4 and 5 with milder pulmonary disease. which are generally pancreatic sufficient Though there is no cure for CF.

and treatment strategy Although CF is a multi organ disease. 2005) . 2010 and Silkworth et al.Pathophysiology and Clinical Manifestations   Severity of CF is highly variable. the lungs are the most critical site of involvement & respiratory failure is almost always the cause of death (McCance and Huether. environment. Even affected siblings may have disparate courses despite the identical CFTR mutations..

S.Clinical Manifestations of Respiratory System RESPIRATORY SYSTEM        Persistent cough or wheeze Sputum production Recurrent or severe pneumonia due to accumulation of mucus in the lungs and airways Chronic sinusitis Nasal polyps Digital clubbing develop early on without significant pulmonary impairment Barrel chest & persistent crackles occur much later in the course of the disease. 2011) . 2011 and U. National Library of Medicine. (Cystic Fibrosis Foundation.

2011) .(National Center for Biotechnology Information.

2005) . and infection are typical features of CF  Most common bacterial colonization of the lung tissue with CF are Pseudomonas aeruginosa and Staphylococcus aureas   Overtime chronic bronchititis. bronchial fibrosis. and Silkworth et al. patchy consolidation and pneumonia.Clinical Manifestations of Respiratory System in Advanced CF  Destruction of lung tissue is the major cause of morbidity and mortality among individuals with CF  Mucus plugging. and progressive bronciectasis causes inflammation and progressive destruction of lung tissues Parenchyma involvement occurs later and includes abscess formation.. chronic inflammation. 1337. 2010 . and cyst formation (McCance and Huether.

Clinical Manifestations of the Respiratory System in Advanced CF     Pneumothorax Hemoptysis due to erosion of enlarged bronchial arteries that develop due to inflammation associated with bronchiectasis Pulmonary vascular remodeling occurs secondary from localized hypoxia and arteriolar vasoconstriction Pulmonary hypertension and cor pulmonale may develop with end-stage disease (McCance and Huether. 2010 and Cystic Fibrosis Foundation. 2011) .

2005 and McCance and Huether. et al..Clinical Manifestations of the Digestive System DIGESTIVE SYSTEM  Meconium ileus at birth  Rectal prolapse  Thick meconium stool in a newborn’s intestines  Failure to thrive and malabsorptive symptoms that include frequent loose and oily stools (Cystic Fibrosis Foundation. 2011 and Silkworth. 2010) .

2011 and McCance and Huether. 2010) . foul-smelling stools Excessive gas or severe constipation can cause discomfort (Cystic Fibrosis Foundation.Clinical Manifestations of the Digestive System  Metabolic abnormalities    Trace element deficiencies Fat soluble alterations Electrolyte imbalances   Ongoing diarrhea or bulky.

which impedes penetration of the sperm (McCance and Huether. 2010 and Lehne. 2010) .Clinical Manifestations of Reproductive System REPRODUCTIVE SYSTEM  98% of men who have cystic fibrosis are infertile because they’re born without a vas deferens  70% to 80% of women have a difficult time becoming pregnant because of mucus blocking her cervix.

2010) .Clinical Manifestations of Advanced Cystic Fibrosis       Pancreatitis Rectal prolapse Liver disease (5%) Diabetes mellitus (10% to 25%) Decreased bone mineral density Gallstones (Cystic Fibrosis Foundation 2011 and McCance and Huether.

2011) .(Wikipedia .

Lung Association.(National. 2011) . Heart.

Screened babies are diagnosed around 2 weeks Diagnosis by clinical symptoms is usually 14. The tests checks a blood sample for a faulty CFTR genes and indicates whether a newborn’s pancreas is work. 2005) . 2011 and Silkworth et al.Diagnostic Testing  Immunoreactive trypsinogen test (IRT)         Part of the Newborn Screening and helps diagnosis pancreatic insufficiency A high level of IRT suggest possible CF and requires further testing Is mandated in 32 of the 50 states in the United States The newborn screening test is done during the first few days of life in the hospital. A positive result tells you that your baby MIGHT have health condition that requires further study.. Other tests are needed to confirm the diagnosis.5 months (Cystic Fibrosis Foundation. A few drops of blood from a heel prick are placed on card called the Guthrie card.

The sweat test is usually done twice A high salt level in excess of 60 mEq/L indicates cystic fibrosis (McCance and Huether 2010 and Silkworth et al. Sweat is collected on a pad or paper and then analyzed.Diagnostic Testing  Sweat Test    This test is the most useful of testing to confirm a diagnosis of cystic fibrosis Measures the concentration of salt in a person’s sweat by trigger sweating on a small patch of skin on an arm or leg.. 2005) .

2010) . There is up to a 10% failure to confirm due to the lack of ability to detect every described CF-associated mutation. and testing only confirms less than 100 mutations (McCance and Huether.Diagnostic Testing  Genetic Testing  Genotype for CFTR mutations as an alternative or supplemental method to diagnosing CF. There are more than 1500 specific mutations.

CF causes a disruption of pancreatic function Measure the size of the lungs. how well the lungs take in and release air and how well they move gases such as oxygen from the atmosphere into the body’s circulation blood  Secretin stimulation test   Lung function tests  (Cystic Fibrosis Foundation. which helps estimate the percentage dietary fat that the body does not absorb Fecal fat test   Sputum test  Identify what bacteria is growing. 2011 and McCance and Huether.Other Tests   Computerized Tomography (CT) & Chest X-Ray  Indicates whether lungs are inflamed. This test is done to evaluate the digestive function of the pancreas. If Pseudomonas is growing in the mucus that indicates advanced CF that needs aggressive treatment. Secretin is produced by the small intestine when partially digested food has moved into the area of the stomach. Measures the ability of the pancreas to respond to the hormone secretin. 2010) . or whether air is trapped Measures the amount fat in the stool. scarred.

sticky mucus from the lungs Prevent or treat blockages in the intestines Provide enough nutrition Prevent dehydration (McCance and Huether. reduce and control mucus in the lungs. 2010 and Cystic Fibrosis Foundation 2011) .Goals of Treatment    Cystic fibrosis has no cure Medications for Cystic Fibrosis helps keep the lungs as healthy as possible. and replace digestive enzymes The goals of cystic fibrosis treatment are:      Prevent and control lung infections Loosen and remove thick.

Pharmacological Agents  Nutritional/Gastrointestinal Drugs   Pancreatic Enzymes Fat-Soluble Vitamins  Pulmonary Drugs    Inhaled Dornase Alfa Oral Ibuprofen Inhaled Beta2-Adrendergic Agonists  Mucolytics (McCance and Huether 2010 and Lehne. 2010) .

they do not need the fat from the diet to be absorbed  Deficiencies in vitamins A and E are common in patients with cystic fibrosis. it is recommended that patients with CF received fat soluble vitamins. and eventually atrophy of the acinar cells take places. 2010. therefore supplements are prescribed because they are inexpensive and safe. p. K are generally absorbed through the medium of fat from our diet. Since this mechanisms is faulty in individuals with CF.Nutritional Drugs   Due to thickened secretions plugging the smaller pancreatic ducts. 1338) . Vitamin A. E. water based vitamins are available so that when they are taken orally. (McCance and Huether. This results in the need of exogenous pancreatic enzymes Although fat absorption issues improve with pancreatic enzymes. in water soluble form due to their nutritional intake can vary tremendously. D.

p. It works by breakdown fats. but also D and K. Purpose      Given as a replacement therapy Enzymes contain lipase.Nutritional Drugs-Pancreatic Enzymes  Pancreatic Enzymes   Acts in place of the normal substance made by pancreas.1256) . especially A and E. (Lehne. This allows the body to use these substances for energy and prevent them from being passed as frequent fatty bowel movements. starches from food into smaller substance to be absorbed from the intestine. protease. protein. 2010. and amylase Taken with meals and snacks in order to absorb and control malabsorption symptoms Used in the defense of maldigestion and malabsorption of fats and other nutrients Aide in absorption of fat-soluble vitamins.

p. Lipram.Nutritional Drugs-Pancreatic Enzymes  Pancreatic Enzymes  Formulation & Preparations  Enteric-coated microspheres     Protect the enzymes from stomach acid Ensure dissolution in the duodenum Pancreatin  Made from hog or beef pancreas Pancrelipase (Vikosase. and Pancrecarb MS)  Made from hog pancreas  Enzyme activity is greater than pancreatin  Preferred Preparation (Lehne. 2010. 1256. 2011. Pancrease MT. 1400) . and Turkoski et al.. p.

especially the great toe  Very rare       Diarrhea Nausea Cramping Bloating Gas Irritation around the anus  Dosages  Determining factors include the extent of enzyme deficiency.g. swelling) Blood stools or black tarry stools Pain or swelling in joints. and enzyme activity of the preparation selected Measuring the reduction in 24-hour fat excretion  Efficacy  (Lehne 2010) .Nutritional Drugs-Pancreatic Enzymes  Pancreatic Enzymes  Adverse Reaction  Severe AR     Diarrhea that does not go away Allergic reaction (e. rash. dietary fat content.

Edmunds and Mayhew. p. 2010. 2010. 1256. and gender Measurement of fat in the stool  Dosage   Efficacy   (Lehne. Spray Recommended daily allowance depends on the individual health age. 2011) .Nutritional Therapy-Fat Soluble Vitamins  Fat-Soluble Vitamins  Purpose   Deficiencies of vitamins with patients with CF are common Adequate absorption of essential vitamins  Formulation & Preparation   Take with food Tablets. and Cystic Fibrosis Foundation. Capsules.

.Pulmonary Drugs  Due to the destruction of lung tissue is the major cause of morbidity and mortality among patients with CF treatment of the pulmonary system is vital.

and Tomsik. p. p.aeruginosa Treatment of gram negative bacilli Inhalation Tinnutitis Sputum discoloration Voice alteration Emergence of resistance is a concern  Formulation & Preparation   Adverse Reactions     (Lehne. 1780) . 2010.Pulmonary Drugs-Antibiotics  Antibiotics (Tobramycin)  Purpose   Suppressing chronic infection with P. 2011. Lance. 1256 and Turkoski.

1256 and Turkoski et al.Pulmonary Drugs-Antibiotics  Antibiotics (Tobramycin)  Dosage  >6 years of age: 300mg every 12 hours in repeating cycles of 28 days on and 28 days off Improves pulmonary lung function Reduces the density of P. 2010.aeruginosa in sputum Decreases risk for hospitalization Unknown if it prolongs life  Efficacy     (Lehne. p. 1780) .. p. 2011.

Pulmonary Drugs-Antibiotics     Acute exacerbations of pulmonary infection in patients with cystic fibrosis are often treated with oral or IV antibiotics. 1256) . Mild cases-usually oral antibiotics Severe cases-IV antibiotics Common antibiotics     Aminoglycosides Piperacillin Ticaracillin Imipenem (Lehne. p. 2010.

2011. 1620) .. Acts locally on the lungs Causes bronchodilation and improving ciliary function Inhalation Powder headache Hoarseness of the throat Children: 50 mcg/inhalation. 2010 . 12 hours apart Peak flow Pulmonary Function test  Formulation & Preparation   Adverse reaction    Dosage    Efficacy   (Lehne.p. p. children>4-refers to adult dosing Adult: 50 mcg/inhalation twice daily.Pulmonary Drugs-Inhaled Beta2Adrenergic Agonist  Inhaled Beta2-Adrenergic Agonist (Servent Diskus)  Purpose   Used for long term to improve lung function and relaxes smooth muscle on selective beta2 receptors without effect the heart rate. 1256 and Turkoski et al.

000 a year Nebulizer cost $2000  Formulation & Preparation    (Turkoski et al. 2011. allowing air to flow more freely and preventing microorganisms to build up Improve pulmonary function in patients with CF Inhalant Expensive-$12. 1256) . 574 and Lehne. Pulmonzyme)    Dornase Alfa is used to reduce the number of lung infections and to improve lung function in patients with cystic fibrosis Breaks down the extracellular DNA that accumulates in the lungs from the death of neutrophils Purpose   It breaks thick mucus secretion in the airway. p.Pulmonary Drugs-Inhaled Dornase Alfa  Inhaled Dornase Alfa (Dnase. 2010. p..

.Pulmonary Function-Inhaled DNase  Adverse Reactions      Voice changes Sore throat Hoarseness Eye irritation Rash Children >3 months 2. 574 and Lehne. children <5 years is limited Adult 2.5 mg once daily through nebulizer.5mg once daily through nebulizer Usually taken 1 to 2 times a day Must be administered everyday of life Reduction in respiratory system infection that need IV antibiotics Improvement in pulmonary lung function tests  Dosage      Efficacy   (Turkoski et al. 1256) . p. 2011. p. 2010.

Pulmonary Drugs-Ibuprofen  Oral Ibuprofen  Purpose   High doses ibuprofen can slow progression of pulmonary damage in patients with mild lung disease caused by CF Suppresses the inflammatory response that underlies destruction of lung tissue. p. 938) .p. 2011.. Oral (liquid or tablet form) Should be taken with food  Formulation & Preparation    Adverse Reactions      GI upset GI bleeding Conjunctivitis Epistaxis Kidney failure Long term medication >4 years of age twice a day to maintain plasma concentration of 50 to 100 mg/mL Slower change in lung function volume and improvement of chest x-ray  Dosage    Efficacy  (Lehne. 1256 and Turkoski et al. 2010.

p. 2010. tightness of chest or difficulty in breathing Skin rash        Bronchospasms May cause a stickiness to the face if using a mask to inhale Clammy skin Fever Irritation to mouth. These medications is not used often due irritation they cause to the lung tissue Purpose  Liquefies and dissolves mucus that makes breathing difficult so that it may be coughed up Hypertonic saline and acetycysteine Smells like rotten eggs Usually given by inhalation but can be given Rare side effects    Formulation & Preparation     Adverse Reactions  Wheezing. nose. throat Nausea or vomiting Runny nose (Lehne.Pulmonary & Digestive DrugsMucolytics  Mucolytics (acetylcysteine)   Thin mucus in the lungs and also in the intestines. 1256 ) .

2010 and National Center for Biotechnology Information.Pulmonary & Digestive DrugsMucolytics  Mucolytics   Dosage  General use 250-1500 milligrams daily by mouth Expulsion of Mucus Amount and consistency of mucus Efficacy   (Lehne. 2011) .

It is designed to improve respiratory efficacy. promote expansion of the lungs. strengthen respiratory muscle. 2011) .  Types  Postural Drainage  Uses gravity to drain the mucus and prevent lung infections Mechanical Percusser (an electric chest clapper) Inflatable therapy vest that uses high-frequency airwaves to force the mucus that’s deep in your lungs toward your upper airways so that the individual can cough it up A small handheld device that an individual breathes out through and causes vibrations that dislodges the mucus A mask that creates vibrations that helps break the mucus loose from the airway walls  Chest clapping or percussion     Cystic Fibrosis Foundation. 2011 and National Center for Biotechnology Information. and eliminate secretions from the respiratory system.Nonpharmacological Treatment Methods  Chest Physical Therapy (CPT)  Purpose  To help patients breathe more easily and get more oxygen into the body.

Examples of Chest Physical Therapy (National Center for Biotechnology Information. 2011) . 2011 and Cystic Fibrosis Foundation.

Therefore a high salt diet maybe recommended high salt diet or salt supplements (Cystic Fibrosis Foundation 2011 and US National Library Medicine.Nonpharmacological Treatment Methods  Exercise  Aerobic Exercise-makes an individual breathe harder helps loosen the mucus in the airways so the mucus can be coughed and expelled  Aggressive nutritional support is vital to patients with CF that includes:  Meticulous monitoring of growth patterns Ensuring adequate caloric intake High protein and calories especially in older children and adults High salt diet   Diet    CF causes the body to loose large amounts of salt when an individual sweats. 2011) .

Surgical and Other Procedures  Gastrostomy Tube  If a patient is struggling to fight an infection that makes it difficult to eat or increases the demand and work of breathing so much that it is difficult to eat to maintain energy requirements a gastrostomy may be used in boosting nutrition When CF becomes advanced and the organs begin to fail specifically the lungs and transplant is often needed  Organ Transplant  (Cystic Fibrosis Foundation 2011) .

fumes. families. dirt. dust. mold and mildew Clearing or bringing up mucus or secretions from the airway Educating patients. fireplace smoke. and caregivers about chest percussion and postural drainage to help keep the airways clear Drinking plenty of fluids Exercising two or three times each week Not smoking and avoiding tobacco smoke Washing hands often to lower the risk for infection Chest therapy regularly (Cystic Fibrosis Foundation. 2011) . household chemicals.Nursing Care &Lifestyle Modifications at Home         Avoiding smoke.

2005) . and Silkworth.. et al. 2010 .Nursing Care  Nursing Assessment & Goal of Care      Interview the parents of the child for familiar history of CF Determine if child had meconium ileus at birth Monitor compliance and technique of medication administration Provide education and monitor effective technique on sanitizing respiratory equipment to prevent respiratory infection Frequent monitory of lung function   Lung function test Spirometry testing every hour during hospitalization Monitor height. Lehne. and body mass index for growth patterns Monitor weight weekly to assess effectiveness of nutritional interventions Educate and encourage patient to increase oral fluid intake to help liquefy the mucus Educate on the need for salt replacement Encourage the need for diet composed of high calories and protein and moderate in fat due to absorption of food is incomplete Provide good skin care and position changes to prevent skin breakdown in malnourished child  Investigate child’s eating/feeding habits       (Cystic Fibrosis Foundation 2011. weight.

with a gloved lubricated finger replace it back gently After replacement of rectum hold buttock together to maintain gentle pressure on the anus Observe the patient’s stool for effectiveness of the pancreatic enzyme   Monitor for odor Size of stool  If pancreatic enzyme are effective. the stool should be consistent and characteristic demonstrating and increase in proper digestion of food (Silkworth et al.Nursing Care  Ask parents or patient to describe the child’s stool     In an infant change diaper immediately after a bowel movement & assess for a prolapsed rectum If a prolapsed rectum is present.. 2005) .

et al 2005) . and ease of expulsion      Postural Drainage Suction the child or young infant when necessary.Nursing Care  Monitor respiratory status and sputum production      Auscultate child’s lungs and observe breathing pattern Assess lung sounds for crackles or wheezing Assess shortness of breath and the use of accessory muscles Assess color and odor of sputum Monitor effectiveness of expelling mucus  Amount. if not able to cough Teach the patient about breathing exercises using pursed lips to increase duration of expiration Provide chest physical therapy three to four times a day to assist in loosening secretions Provide respiratory hygiene  Provide frequent mouth care to reduce chances of infections because mucus is present (Silkworth. thickness.

.Nursing Care  Nursing Assessment & Goal of Care  Assess and inspect for signs of oxygen deprivation         Oxygen saturation Skin color-cyanosis Clubbing of fingernails Poor circulation-specifically to the extremities Confusion or mental “fog” Inquire about child’s activity tolerance and sleeping patterns Sleep disturbance. Encourage exercise and activity to foster independence and improve pulmonary function Schedule and encourage regularly schedule appointments and follow up appointments Work in collaboration with the school and getting a homebound instruction when needed if patient is going to miss school  Assess the stress and mental well being of the family and the patient   (Silkworth et al. 2011) . 2005 and Cystic Fibrosis Foundation.

2005) .. Notify physician if symptoms of exacerbation symptoms continue to get worse     Shortness of breath Fever Increase in mucus production Unable to expel mucus   Educate and monitor for life symptoms of life threatening respiratory distress Teach the patient and family about weekly weight checks (Silkworth et al.Nursing Care  Medication    Educate the patient and family about taking medication as prescribe. Taking the pancreatic enzymes and fat soluble vitamins with meals and snacks Educate the family about not discontinue use of medication until discussing it with the physician.

2005) .Nursing Care  School  Nurse acts as the health professional liaison with schools         Allow permission for patient to eat snacks during class Allow unrestrictive restroom privileges Access to classroom assignments when student is absent Collaborate with the educational team regarding classroom expectations with a study with CF Promote effective airway clearance Perform CPT at school during acute exacerbations Encourage student to cough throughout the day to expel excess mucus Reinforce infection control techniques with the custodial staff Monitor for adverse drug effects  Monitor effectiveness of medication  (Silkworth et al.

(2011. Retrieved from http://www..org/AboutCF/ Edmunds..svg .htm Wikipedia (2011.nih. Pharmacology for nursing care. National Library of Medicine. M. K. S (2010). November 9).org/wiki/File:Cystic_fibrosis_manifestations.medicinenet. issues and application for school nursing practice. (2011.gov/medlineplus/ency/article/000107. November 5). D.). Retrieved from http://en. (2010). Pharmacology for the primary care provider. B. North Branch. (2005)..cff..webbooks.gov/pubmedhealth/PMH0001167/ National Heart. Lance. Hudson.com/eLibrary/ON/B0/B34/09MCysticFibrosis. St.nih. About Cystic Fibrosis. November 9). St. C. (6th ed. (2009). (2011). Ohio. E. and Zaiger. Cystic Fibrosis. November 9). R.html Silkworth. and Mayhew. MN: Sunrise River Press Turkoski.S. and Tomsik..ncbi. Cystic Fibrosis.nlm.(3rd ed. Retrieved from: http://www. and Huether.). (7th ed. Harrigan. Drug information handbook for advanced practice nursing.). Individualized school healthcare plans for the school nurse: concepts. Retrieved from http://www.. Louis: Mosby National Center for Biotechnology Information (NCBI). Louis: Saunders McCance. Arnold. (2011. framework. Cystic Fibrosis. (12th ed. Louis: Saunders Government (2011. November 15).nlm. St.References Cystic Fibrosis Foundation (2011.. Lexi-Comp U.htm Lehne. J. Cystic Fibrosis.. M. Retrieved from: http://www.com/cystic_fibrosis/article.). Lung and Blood Institute. B. M.wikipedia. November 5). Pathophysiology: The biologic basis for disease in adults and children. Retrieved from http://www. Cystic Fibrosis.

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