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5 Cards in this Set

  • Front
  • Back

What percentage of CF patients carry the deltaF508 mutation?

70%

What is the most common lethal AR disorder in Caucasians?

CF

What are the clinical manifestations of CF?

Chronic respiratory lung infections, inflammation, obstruction leading to lung disease




Exocrine pancreatic insufficiency




intestinal obstruction/meconium illeus




CBAVD




DM




Progressive obstructive liver disease

What are the class I, II, and III mutation?

absent CFTR




more severe pheno with pancreatic insufficiency

What are Class IV and V mutations?

retain partial CFTR, more mild pheno, pancreatic sufficiency