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12 Cards in this Set
- Front
- Back
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incidence of CF
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1 in 2500 live births in US
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carrier percentage of CF
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1 in 25 caucasions
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cause of CF
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mutation of Cftr gene(7q)- defective cAMP dependent chloride transport by an ion channel
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CFTR
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cystic fibrosis transmembrane conductance regulator
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heredity of CF
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autosomal recessive
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symptoms of CF
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inc. sweat, bile duct obstruction-jaundice, pancreatic duct obstruction-fat maldigestion, bronchial obstruction-pneumonia, mucous plugs, infertility
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CF diagnosis
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sweat test-[Cl] > 60 mEq/L; newborn screening IRT; gene testing; nasal PD; lung function test; stool examination
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CF DNA screening
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DNA sample-PCR-spot on membrane-ASO
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consequences of CFTR mutation
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not sythesized, processing blocked, regulation blocked, altered conductance, reduced synthesis
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most common CF mutation
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delta F508- 3 bp deletion resulting in loss of aa 508- loss of a phenylalanine- abnormal folding of CFTR
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Number of CF mutations
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995- 208 sequence variations
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treatments for CF
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bronchial drainage; bronchodilators and decongestants; antibiotics; high caloric diet; pancreatic enzymes; organ transplant; gene therapy
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