Cystic Fibrosis

1. Race - most common in white, northern European ancestry

2. Family History

3. Symptoms

3.1. Early: Meconium ileus, salty sweat, poor weight, failure to thrive, frequent coughing/wheezing, thick mucus, greasy pale stools

3.2. Chronic cough, recurrent chest colds, wheezing, shortness of breath, frequent sinus/lung infections, constipation, pancreatitis, hyperglycemia, nasal plyps, bronchiectasis, sterility, abdominal distension, steatorrhea, cirrhosis

4. Risk factors

5. Diagnostic tests

5.1. New born screening and blood test immunoreactive trypsinogen (IRT/DNA and IRT/IRT1/DNA)

5.2. Sweat chloride test - choride concentration >60mmol/L

5.3. Chest radiograph, pulmonary function test, and arterial blood gas used to monitor disease progression

6. Treatment

6.1. Breathing treatments, annual flu vaccinations, symptomatic respiratory treatment

6.2. Airway clearance therapy - flutter valve therapy, mechanical ventilation, manual chest percussion, high - frequency vest-assisted chest compression

6.3. Inhaled hypertonic saline, mucolytics, antibiotics, anti-inflammatories

6.4. Nutritional therapy and supplementation

6.5. Lung Transplant

7. Autosomal recessive gene, appears when two carriers have children

8. Genetics

8.1. Mutation of Cystic fibrosis transmembrane conductance regulator (CFTR) gene

8.1.1. Disrupts function of chloride channels preventing regulation of chloride ions and water across cell membrane

8.2. CFTR gene gives instruction for creating channel which transports negatively charged chloride ions in and out of cells and is required for the function and production of thin free flowing mucus

9. Pathophysiology

9.1. Mutation of CFTR gene creates defective or lack of CTFR protein, disrupts function of chloride channels preventing regulation of chloride ions and water across cell membrane

9.2. Affects exocrine glands in respiratory system lungs, digestive system, and sweat gland, results in build up of thick secretions and blocks narrow passages in organs

9.3. Respiratory system - mucus is collected in airways and produces colonization of bacteria which leads to infection, repeated inflammatory response and airway damage

9.4. Digestive system - Blockage of prancreatic canaliculi causes impediment of digestive enzymes from pancreas to duodenum causing poor absorption of nutrients, pancreatic damage, glucose intolerance. Sluggish bile flow associated with cholangiocyte-induced imflammatory response and activation of hepatic stellate cells results in hepatobiliary disease

9.5. Male Infertility caused by blockage of vas deferens and thickened cervical mucus in females.