1. Diagnostic Tests
1.1. carrier screening can be performed on parents to see if they might pass on the gene to their child that results in CF
1.2. chloride sweat test
1.2.1. chloride >60 mmol
1.3. newborn screening
1.3.1. presence of 2 mutated CFRD genes
1.4. pulmonary function tests
1.4.1. done regularly to monitor disease progression
1.5. X-rays
1.5.1. hyperinflation or opacity in lungs
1.5.2. ileus or obstruction in digestive tract
1.6. sputum cultures to test for bacteria sensitivity to administer appropriate antibiotic for infections
2. Common Findings
2.1. respiratory
2.1.1. cough
2.1.2. wheezing
2.1.3. dyspnea
2.1.4. fatigue
2.1.5. increased sputum
2.1.6. chronic infections
2.1.7. clubbing of fingers and toes
2.2. digestive
2.2.1. failure to thrive/underweight
2.2.2. meconium ileus in infants
2.2.3. maldigestion
2.2.4. pancreatic disease
2.2.4.1. malabsorption
2.2.4.2. CF-related diabetes
2.2.4.3. pancreatic insufficiency
2.2.4.4. pancreatitis
2.2.5. hepatobiliary disease
2.2.5.1. cirrhosis
2.2.5.2. portal hypertension
2.2.5.3. variceal bleeding
2.2.5.4. gallstones
2.3. reproductive
2.3.1. infertility
2.3.1.1. males have underdeveloped vas deferens
2.3.1.2. females have tenacious cervical mucus and are usually malnourished
2.4. electrolyte abnormalities
2.5. kidney stones
3. Causative Factors
3.1. each parent contributes the recessive allele (trait) to the individual
3.2. there are >2000 mutations that can occur on the CFTR gene that result in CF
3.2.1. the most common mutation is F508del occurring in 90% of CF patients
4. Risk Factors
4.1. if both parents are carriers then there is a 25% chance an individual will have CF (this risk stays the same for all siblings)
4.2. occurs in 1 in every 3200 births in white Americans in the United States
5. Genetics and Pathophysiologic Etiology
5.1. autosomal recessive trait
5.1.1. mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR) on chromosome 7
5.2. abnormal transport proteins for sodium and chloride in the epithelium results in thick secretions in the respiratory tracts, pancreas, intestines, biliary tract, and reproductive system
5.2.1. thickened airway secretions
5.2.1.1. chronic respiratory infections
5.2.1.2. colonization of multiple bacteria in the respiratory tract
5.2.2. thickened secretions in the digestive tract
5.2.2.1. CF-related diabetes
5.2.2.2. malabsorption and maldigestion
5.2.2.3. liver disease
5.2.2.4. intestinal obstruction
5.3. some CFTR mutation phenotypes cause CF to present later in life but still possess 2 copies of the defective allele
6. Treatment
6.1. Respiratory
6.1.1. airway clearance
6.1.1.1. percussive vest therapy
6.1.1.2. chest physiotherapy
6.1.1.3. oscillating positive expiratory pressure treatments
6.1.1.4. inhaled secretion clearance drugs/nebulizers
6.1.2. CFRD modulator drugs
6.1.3. vaccinations to prevent infection
6.1.4. physical distancing from other CF patients
6.1.4.1. prevents cross contamination of colonized respiratory bacteria
6.1.5. bronchodilators
6.1.6. antibiotics during infection
6.2. Digestive
6.2.1. high calorie high protein diet
6.2.1.1. 130% of recommended daily caloric intake
6.2.2. fat soluble vitamins
6.2.3. enzymes given with meals
6.2.4. dietary supplements for extra calories
6.2.5. enteral feeding
6.2.6. insulin for CFRD
6.2.7. gallbladder removal
6.3. organ transplant
6.3.1. lungs
6.3.2. liver