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11 Cards in this Set
- Front
- Back
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CF |
is caused by a mutation in a gene that encodes Cystic Fibrosis Transmembrane Conductance Regulation Life expectation -31 |
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CFTR |
protein actually fns as a cAMP dependent chloride channels, a bicarbonate channel + as a modulator of other ion channel CFTR is located in the apical membrane of membrane of secretory and absorptive epithelial cells of the pancreas, intestine, liver, airways and sweat glands |
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Autosomal recessive |
a gene on one of the non sex chromosomes that is recessively expressed |
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CF clinical manifestation Pulmonary disease |
-persistent cough -copious sputum production -airway infection -inflammation + tissue damage |
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CF clinical manifestation Pancreatic dysfunction + GI symptoms |
-impaired enzyme secretion from pancreas -CF related diabetes in older patients |
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Other CF manifestations |
-meconium ileus: intestinal obstruction in a newborn child -thickened intestinal secretion, malabsorption, malnutrition, decreased gut motility -salty-tasting skin -infertility:congenital absence of the vas deferens |
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Mutations may: |
-reduce CFTRR transcription or translation -affect trafficking or accelerate protein turnover -cause loss of protein function -changes in consistency + chemical composition of exocrine secretion -thick, sticky mucus build up flattens cilia |
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Testing for CF |
-blood test in newborn testing for the most common gene alterations that cause CF. -Sweat test. In CF sweat has higher levels of salt that normal |
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CF cascade |
CFTR gene detects -> defective ion transport -> airway surface liquid depletion -> defective mucociliary cleanse -> mucus obstruction -> infection -> inflammation |
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mucolytics |
-to reduce viscosity of bronchial secretion -hypertonic solution -inhaled recombinant human DNase |
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physical therapy |
Postural drainage + percussion |
