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Card
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Title
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Cystic Fibrosis
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ImagePath
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System
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ion channel disorder
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Overview
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Autosomal recessive multisystem disease due to CFTR Cl⁻ channel defect.
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Pathophysiology
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ΔF508 (Phe508del) misfolding → ↓ Cl⁻ secretion & ↑ Na⁺ absorption → thick mucus in lungs, pancreas, GI, GU.
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Presentation
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Recurrent pulmonary infections (S aureus, Pseudomonas), pancreatic insufficiency, meconium ileus, infertility (absent vas deferens), nasal polyps, digital clubbing.
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Diagnosis
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Sweat chloride ≥ 60 mEq/L twice, abnormal CFTR genotyping, or nasal potential difference.
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Management
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Pancreatic enzyme + ADEK, chest physiotherapy, dornase alfa, hypertonic saline, CFTR modulators (ivacaftor, elexacaftor/tezacaftor/ivacaftor).
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Epidemiology
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1 : 2500 Caucasian births; carrier freq 1 : 25.
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Tags
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