Cystic Fibrosis

Cystic Fibrosis – Introduction Cystic fibrosis (CF) - inherited autosomal recessive disorder in children Most common cause of chronic lung disease in children – 30,000 children & adults in US Incidence Annually 1,000 children diagnosed 70% of patients are diagnosed by age 2 40% of CF population is age 18 and older Median life span of 37 years Cystic fibrosis is an inherited autosomal recessive disorder in children that affects the lungs and digestive system of children. “Cystic fibrosis is the most common cause of chronic lung disease in children and young adults, and the most common fatal hereditary disorder affecting Caucasians in the US” (MedlinePlus, 2006, Para 1). In the United States some 30,000 children and adults have CF. In the US, there is approximately 1,000 new cases of cystic fibrosis diagnosed each year and 70% of patients are diagnosed with CF by the age of two, 40% of patients with CF are 18 or older and in 2006 the median age of survival was 37 years (Cystic Fibrosis Foundation, 2007). Respiratory failure is a consequence of CF and is usually the cause of death.

Etiology--Cause Genetically transmitted disease Genes (DNA) From both parents Gene located on 7th chromosome 2 copies of genes needed to inherit disease Carrier states Cystic fibrosis (CF) is a genetically transmitted disease in which children inherit CF from parents through genes (DNA). Genes (DNA) “also determine a lot of other characteristics including height, hair color and eye color” (Cystic Fibrosis Foundation, 2007, Para 3). According to the Cystic Fibrosis Foundation (2007, Para 3), genes are found in the nucleus of all the body’s cells and control cell function by serving as the blueprint for the production of proteins. Chromosome 7 carries the defective gene responsible for causing CF. In order for a child to have CF, he or she must inherit two copies of the defective CF gene. One copy comes from the mother and the other from the father. If both parents carry a CF gene, the “child will have a 25% chance of inheriting both defective copies and having cystic fibrosis, a 50% chance of inheriting one defective copy and being a carrier, and a 25% chance of not having CF or carrying the gene” (Cystic Fibrosis Foundation, 2007, Para 4).

Where is the CF Gene? The CFTR gene is located from base pair 117,120,016 to base pair 117,308,718 on chromosome 7. It is located on the long arm (q arm) of chromosome 7. The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells. The transport of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. Mucus is a slippery substance that lubricates and protects the lining of the airways, digestive system, reproductive system, and other organs and tissues. The CFTR protein also regulates the function of other channels, such as those that transport positively charged particles called sodium ions across cell membranes. These channels are necessary for the normal function of organs such as the lungs and pancreas. More than 1,000 mutations in the CFTR gene have been identified. Disease-causing mutations in the CFTR gene alter the production, structure, or stability of the chloride channel. All of these changes prevent the channel from functioning properly, which impairs the transport of chloride ions and the movement of water into and out of cells. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is abnormally thick and sticky. The abnormal mucus obstructs the airways and glands, leading to the symptoms of CF.

Pathophysiology Defective gene Body produces thick, sticky mucus Related to protein involved in chloride ion transport Body produces thick, sticky mucus Clogs the lungs Stagnant mucus Obstructs the pancreas Malabsorption & malnutrition This defective gene is related to a protein that is involved in the chloride ion transport in the cell membrane. Abnormally thick secretions are formed from a defect in the exocrine glands. Children with CF have a defective gene that causes the body to produce an unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections and obstructs the pancreas and stops the natural enzymes from helping the body break down and absorb food (Cystic Fibrosis Foundation, 2007). Examples of exocrine glands include the sweat glands, salivary glands, mammary glands, pancreas and liver.

Symptoms Symptoms may include Meconium ileus Salty-tasting skin Appears at birth Salty-tasting skin When newborn is kissed Steatorrhea Greasy, bulky and foul smelling stool Poor growth/weight gain in spite of good appetite Chronic coughing, at times with phlegm Frequent lung infections Signs of CF may appear at birth and include meconium ileus which appears at birth, salty skin may be noticed when newborn is kissed , steatorrhea or frequent greasy, bulky and foul smelling stools or difficulty in bowel movements may be apparent in the first year of life, and malabsorption occurs because the intestine lacks the necessary pancreatic enzymes needed to digest food and absorb nutrients. Chronic cough and frequent infections of the lungs may increase over time – hypoxia, fatigue and an intolerance to activity develops.

Diagnostic Tests Sweat Test Genetic Analysis Measures sodium or chloride in person’s sweat Two samples Ensure false-positive does not occur Not reliable on newborns Genetic Analysis Newborn with signs and symptoms may confirm diagnosis with blood test. Inherited disease Recommend checking family members and first cousins “The standard diagnostic test for cystic fibrosis is a sweat test, which measures the amount of sodium or chloride in a person’s sweat” (Mayo Clinic, 2007, Para 3). The procedure involves placing a small amount of a sweat producing chemical to the arm or leg. An electrode stimulates a weak and painless impulse, which causes a tingling sensation. Sweat is collected after a few minutes and analyzed by lab. To ensure that a false-positive or false-negative result has not happened two separate tests are taken on the same day. If the individual has an unusually high level of salt on the test that is indicative of CF. The sweat test is not useful in newborns as babies do not produce enough sweat to confirm the diagnosis. Physicians will wait until the newborn is a few months old to perform test. If the newborn has the signs and symptoms of CF physicians may recommend doing a genetic analysis to confirm diagnosis. Other tests can also be done to assess the extent and severity of disease process. Test done will include measuring lungs, pancreas and liver. An inherited disease, the physician may recommend that immediate family members and first cousins be checked for CF even if no signs and symptoms are shown.

Common Problems Ineffective airway clearance related to tracheobronchial secretions and obstruction Imbalanced nutrition: less than body requirements related to inability to digest food or absorb nutrients Risk for infection related to chronic pulmonary disease Common nursing diagnosis related to children with cystic fibrosis.

Planning & Interventions Provide respiratory therapy Administer medications Meet nutritional needs Provide psychosocial support Discharge planning and home teaching “The nurse’s role begins with implementing specific medical therapies and providing nursing care to meet the child’s physiologic and psychosocial needs” (London, Ladewig, Ball , and Bindler, 2007, p. 1430, para 2). Respiratory therapy treatments, medications, and the diet are coordinated in order to promote optimal body function of the child. According to London et al (2007) psychosocial support and reinforcement of the child’s daily care needs are important in preparation for home care. Respiratory therapy treatments, including chest physiotherapy, are done before meals to clear secretions because coughing may stimulate vomiting. Medications are administered orally, intravenous and inhalation. Children with CF have increased clearance of many antibiotics therefore they need higher doses and longer treatments. Problems with digestion are eased with the use of pancreatic enzymes, which is individualized based on weight and any digestive problems. The goal is that the child will have almost normal appearing stools and adequate weight gain. Fat soluble vitamins (A, D, E, K) are taken to prevent deficiency. A diet high in calories calorie and well-balanced is preferred for CF children. Psychosocial support for parents and children with CF is essential as CF causes anxiety and fear in both the child and parents. Issues parents and children deal with include body image from stools and odor, frequent hospitalizations and the fatal nature of the disease process. Parents may have feelings of guilt and blame themselves for the child’s condition. Caring for a child with CF can be very expensive and draining on the families budget. Referring the family to social services for financial support may be necessary. Teaching on chest physiotherapy techniques and the child’s nutritional status is important. Teaching should be age appropriate and include activities to help improve lung function, endurance and airway clearance.

Treatments Aimed at relieving symptoms and complications Antibiotics Aerosolized Mucus-thinning drugs Thins secretions Easier to cough up Bronchodilators Relaxes smooth muscles in the airways Treatment for CF is aimed at relieving the symptoms and complications of the disease process. “The main goal is to prevent infections, reduce the amount and thickness of secretions in the lungs, improve airflow, and maintain adequate calories and nutrition” (Mayo Clinic, 2007). In order to accomplish these objectives treatments for patients with CF may include: Antibiotics – New antibiotics fight bacteria more effectively in airway passages. To do this aerosolized antibiotics may be used. Long-term antibiotic use is associated with drug-resistant bacteria. Mucus-thinning drugs – When WBCs attack bacteria in airway passages DNA is released by cells making the mucus in airways even thicker. An aerosolized drug, such as Pulmozyme, fragments DNA making the mucus thinner and easier to cough up. Bronchodilators, such as albuterol, are used to relax the smooth muscles in the airways.

Treatments Bronchial airway drainage Oral enzymes and better nutrition Postural drainage Oral enzymes and better nutrition High calorie diet Special vitamins & pancreatic enzymes Lung transplant Pain relievers Ibuprofen Bronchial airway drainage – Chest physiotherapy (chest PT) is performed with the patient’s head down so that gravity can help clear the secretions. Usually done for 20-30 minutes/day. Oral enzymes and better nutrition – CF causes the patient to become malnourished because pancreatic enzymes that are needed for digestion do not reach the small intestine, which prevents food from being absorbed. High calorie diet along with supplemental high calorie nutrition is needed along with special fat soluble vitamins and enteric-coated pancreatic enzymes are needed to assist with maintaining or gaining weight. Lung transplant is considered for those CF patients that have severe breathing problems, life threatening lung complications or inability to treat lung infections. Due to both lungs being affected in CF patients, both lungs need to be replaced. Serious complications exist from surgery, especially infection. A pain reliever such as Ibuprofen may slow the CF process in children, especially slowing lung deterioration (Mayo Clinic, 2007).

Parent and Child Education Respiratory infections Avoid exposure Chest percussion & postural drainage Diet Community resources Genetic counseling Written information Home care Support services Information to be provided during educational sessions with parent.

References Cystic Fibrosis Foundation. (2007). About cystic fibrosis: Frequently asked questions. http://www.cff.org/AboutCF/Faqs/ Mayo Clinic. (2007). Cystic fibrosis – diseases and conditions. http://www.mayoclinic.com/health/cystic-fibrosis/DS00287/DSECTION=6 References used to complete this cystic fibrosis PPT.

References MedlinePlus. (2006). Cystic fibrosis. https://www.nlm.nih.gov/medlineplus/ency/imagepages/18135.htm National Institutes of Health. (2006). What causes cystic fibrosis?. www.nhlbi.nih.gov/.../Diseases/cf/cf_causes.html