Cystic Fibrosis Gina Brandl, RN BSN Nursing Instructor, Pediatrics

Cystic Fibrosis – Overview of Disease 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

Etiology Genetically transmitted disease –Genes (DNA) –From parents Gene located on 7 th chromosome –2 copies of genes needed to inherit disease –Carrier states (National Institutes of Health, n.d.)

Pathophysiology Defective gene –Related to protein involved in chloride ion transport Body produces thick, sticky mucus –Clogs the lungs Stagnant mucus –Obstructs the pancreas Malabsorption & malnutrition (MedlinePlus, 2006)

Symptoms Symptoms may include –Meconium ileus Appears at birth –Salty-tasting skin When newborn is kissed –Steatorrhea Greasy, bulky and foul smelling –Poor growth/weight gain in spite of good appetite –Chronic coughing, at times with phlegm –Frequent lung infections

Diagnostic Tests Sweat Test –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

Common Nursing Diagnoses Ineffective airway clearance r/t tracheobronchial secretions and obstruction Imbalanced nutrition: less than body requirements r/t inability to digest food or absorb nutrients Risk for infection r/t chronic pulmonary disease Interrupted family processes r/t chronic illness

Planning & Interventions Provide respiratory therapy Administer medications Meet nutritional needs Provide psychosocial support Discharge planning and home teaching

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

Treatments –Bronchial airway drainage Postural drainage –Oral enzymes and better nutrition High calorie diet Special vitamins & pancreatic enzymes –Lung transplant –Pain relievers Ibuprofen

Expected Outcomes The expected outcomes of nursing care include –Family and/or child demonstrate proficiency in Providing pulmonary care Reducing pulmonary infections Developing a schedule for pulmonary cares that fits into family needs –Adequate calories and pancreatic enzymes are consumed to support growth of the child to stay within developmental weight ranges

Parent and Child Education Respiratory infections –Avoid exposure Chest percussion & postural drainage Diet Community resources Genetic counseling Written information –Home care Support services

Critical Thinking Exercise A 9 month-old infant has a pattern of recurrent hospitalizations of respiratory difficulty, recurrent bronchitis with thick mucus production and poor weight gain with thin extremities. His history revealed a meconium ileus at birth. VS: (F) A sweat chloride test confirms a diagnosis of cystic fibrosis. The physician suggests genetic testing.

Critical Thinking Exercise 1.The family asks why genetic testing is needed. How should the nurse respond to the parent’s question? 2.Describe the significance of the sweat chloride test in relation to the disease process of cystic fibrosis. 3.What are the issues related to having a child with a chronic respiratory illness? 4.The family asks why their child has not been gaining weight. How would you respond to this question? 5.Diagnosed during infancy or early childhood, what are the three major presentations of a child with cystic fibrosis to a primary care provider?

References Cystic Fibrosis Foundation. (2007). About cystic fibrosis: Frequently asked questions. Retrieved November 18, 2007, from the website Mayo Clinic. (2007). Cystic fibrosis – diseases and conditions. Retrieved November 23, 2007, from the website fibrosis/DS00287/DSECTION=6 fibrosis/DS00287/DSECTION=6

References MedlinePlus. (2006). Cystic fibrosis. Retrieved November 18, 2007, from the website ages/18135.htm ages/18135.htm National Institutes of Health. (2006). What causes cystic fibrosis?. Retrieved November 21, 2007, from the website