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Cystic Fibrosis
14
Quick facts
by Daniel Kozan
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What is it?
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chloride transport dysfunction resulting in thick secretions from exocrine glands (pancreas, skin, gonads, lungs)
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What is the etiology?
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autosomal recessive mutation of the CFTR gene
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What is the incidence?
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1:3000 live births
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What race is most affected?
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caucasians
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What is the pathophysiology at the cellular level?
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cells are impermeable to chloride causing increased reabsorption of Na which causes dehydration of airway secretions
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What is the typical presentation in a neonate? (3)
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1. prolonged jaundice
2. meconium ileus
3. antenatal bowel perforation
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What is the typical presentation in an infant?
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pancreatic insufficiency, causing steatorrhea and failure to thrive
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What is the typical presentation in childhood? (8)
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1. anemia
2. heat intolerance
3. wheezing or chronic cough
4. recurrent chest infection
5. hemoptysis
6. clubbing
7. distal intestinal obstruction syndrome, rectal prolapse
8. nasal polyps
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What is the typical presentation in older patients? (2)
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1. COPD
2. infertility
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What is the initial investigation to diagnose CF?
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sweat chloride
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What nutritional supplements do patients require? (3)
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1. high calorie diet
2. pancreatic enzyme replacements
3. fat soluble vitamin replacement
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What can be done to manage chest disease?
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1. exercise
2. physiotherapy
3. bronchodilators
4. aerosolized DNAase
5. lung transplantation
6. antibiotics if necessary
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What are the potential complications?
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1. respiratory failure
2. pneumothorax
3. pancreatic fibrosis & diabetes mellitus
4. gallstones
5. cirrhosis & portal hypertension
6. infertility
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What is the current median survival?
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30 years
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