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Cystic Fibrosis

Cystic Fibrosis. Board Review February 11, 2008. Cystic Fibrosis. Mutation in CFTR gene--epithelial chloride channels mutation causes decreased Cl transport and Na hyperabsorption leading to thick secretions most common mutation is delta-F508 (70%), however, over 1500 mutations exist

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Cystic Fibrosis

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  1. Cystic Fibrosis Board Review February 11, 2008

  2. Cystic Fibrosis • Mutation in CFTR gene--epithelial chloride channels • mutation causes decreased Cl transport and Na hyperabsorption leading to thick secretions • most common mutation is delta-F508 (70%), however, over 1500 mutations exist • Autosomal recessive inheritance • 1 in 25 to 30 Caucasians is a carrier, making disease prevalence 1 in 3300

  3. The lungs • Major cause of death (usually by 30 years) is progressive respiratory disease. • Increased secretions lead to obstruction, leading to repeated infections (especially psuedomonas), bronchiectasis, and decline in lung function, causing respiratory failure often with a component of pulmonary hypertension and cor pulmonale

  4. The pancreas • Pancreatic ducts are obstructed by thick secretions, leading to decreased excretion of enzymes into the intestine. • Pancreas is autodigested and replaced by scar tissue, resulting in decreased breakdown of fat and protein • Fat and protein malabsorption, fat-soluble vitamin deficiency

  5. A (retinol) blindness D rickets K prolonged prothrombin time 2, 7, 9, 10--vitamin K dependant factors E (tocopherol) ptosis proprioception truncal ataxia Fat soluble vitamins

  6. General FTT GI meconium ileus in neonate foul smelling stools, bloating rectal prolapse impaction/obstruction pancreatitis low albumin, low sodium cholelithiasis, cholecystitis cirrhosis, portal hypertension neonatal hyperbilirubinemia fat soluble vitamin deficiency Respiratory clubbing asthma COPD, barrel chest productive cough, hemoptysis nasal polyps pneumothorax/mediastinum cor pulmonale, RVH Metabolic dehydration (low Na, low Cl) metabolic alkalosis (esp neonate) DM heat stroke GU infertility in males Presentation

  7. Diagnosis • Elevated serum trypsinogen in neonate • Gene testing • 87 mutation panel (92% sensitivity) • 1300 mutation panel (97 - 99% sensitivity) • GOLD STANDARD: CHLORIDE SWEAT TEST • <40 mEq/L--negative • 40 - 60 mEq/L--equivocal, needs repeat • >60 mEq/L--positive, needs confirmation

  8. False positives adrenal insufficiency nephrogenic DI hypothyroidism mucopolysaccharidosis G6P deficiency hypoproteinemia anemia from poor nutrition False negatives severe malnutrition with edema too little sweat inexperienced tester Diagnosis

  9. Treatment • For acute respiratory infections: hospitalization with PCN and aminoglycoside, pulmonary toilet • baseline pulmonary therapy • aerosols (bronchodilation) • chest physical therapy • aerosolized antibiotics • systemic steroids or expectorants--not indicated

  10. Treatment • Nutritional therapy • high fat, high protein diet • pancreatic enzyme replacements • vitamin and mineral supplements • Other • no support for growth hormone • pulmonary transplant--must transplant both lungs simultaneously!

  11. Prognosis • Life expectancy of about 32 years at best • Poorer prognosis in: • females • low SES • severe neonatal pulmonary disease

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