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16 Cards in this Set

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What is the incidence of cystic fibrosis? in caucasian AA Native american asian?
Caucasian 1:2000 (1/20 carrier)
AA 1:17000 (1:61)
Native American 1:10000 (1:52)
Asian- american 1:31000 (1:88)
WHat causes CF?
A mutation in the CFTR gene
What are the four classes of the CFTR mutations?
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-
What can be used to diagnos CF
Clinical signs and symptoms or family histor and abnormal sweat chloride or 2 identifiable mutations in the CF gene
Respiratory manifistation of CF
Chronic cough, recurrent bronchitis, bronchiectatsis, reactive airway disease
WHat is the intestinal mark for CF in new borns?
Meconium Ileus
What are some intestinal problems associated with CF?
Maldigestion/absorption FTT, rectal prolapse
WHat are some hepatic manifistation of CF?
Biliary cirrosis
Chlethiasis/cholecystitis
Portal Hypertension
What are some gastrointestinal Manifistations?
Pancreatic dysfunction could have diabetes mellitus and abnormal salivary gland
WHat are some urogenital manifestations of the gene? in males and females?
Male: absent or abnormal vas deferens leading to infertility
Females-increased viscosity of cervical mucus leading to decrease in fertility
WHat are some musculoskeletal Manifestations?
clubbing and arthropathy
What are the signs in newly diagnosed patients?
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%
What does amiloride/UTP do for CF patients
Blocks Na uptake and increases CL efflux
When did DC screening in GA start? what test?
2007, immunoreactive trpsinogen in bloodspot sample used to screen for multiple things
If you do a screening and you have an elevated IRT what do you do next
genetic mutation analysis for CF if one or two CF genes identified sweat test if positive then diagnosed
WHat is the goal of early detection of CF gene?
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