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16 Cards in this Set
- Front
- Back
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What is the incidence of cystic fibrosis? in caucasian AA Native american asian?
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Caucasian 1:2000 (1/20 carrier)
AA 1:17000 (1:61) Native American 1:10000 (1:52) Asian- american 1:31000 (1:88) |
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WHat causes CF?
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A mutation in the CFTR gene
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What are the four classes of the CFTR mutations?
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Class I Defects in protein production
Class II deferts in protein packaging, folding and transport to the apical membrane Class III- defects in chloride channel regulation Class IV- defects in channel conductions- you make them but cant transport Cl- |
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What can be used to diagnos CF
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Clinical signs and symptoms or family histor and abnormal sweat chloride or 2 identifiable mutations in the CF gene
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Respiratory manifistation of CF
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Chronic cough, recurrent bronchitis, bronchiectatsis, reactive airway disease
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WHat is the intestinal mark for CF in new borns?
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Meconium Ileus
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What are some intestinal problems associated with CF?
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Maldigestion/absorption FTT, rectal prolapse
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WHat are some hepatic manifistation of CF?
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Biliary cirrosis
Chlethiasis/cholecystitis Portal Hypertension |
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What are some gastrointestinal Manifistations?
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Pancreatic dysfunction could have diabetes mellitus and abnormal salivary gland
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WHat are some urogenital manifestations of the gene? in males and females?
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Male: absent or abnormal vas deferens leading to infertility
Females-increased viscosity of cervical mucus leading to decrease in fertility |
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WHat are some musculoskeletal Manifestations?
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clubbing and arthropathy
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What are the signs in newly diagnosed patients?
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Persistent respiratory symptoms (45%) FTT/malnutrition(35%)
Steatorrhea/malabsorption(27%) Meconium Ileus/intestinal obstruction 18% family history 17% rectal prolapse 3% nasal polyposis. sinustis 2% liver problems 1% |
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What does amiloride/UTP do for CF patients
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Blocks Na uptake and increases CL efflux
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When did DC screening in GA start? what test?
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2007, immunoreactive trpsinogen in bloodspot sample used to screen for multiple things
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If you do a screening and you have an elevated IRT what do you do next
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genetic mutation analysis for CF if one or two CF genes identified sweat test if positive then diagnosed
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WHat is the goal of early detection of CF gene?
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Initiate care, avoid malnutrition of vitamins and other fat solublestuff, prevent hyponatremia and hypchloridemia and prevent early progression of lung disease from bacteria COPD and atelectasis with mucus plugs
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