Cystic Fibrosis is a generalized, autosomal recessive disorder of infants, children and young adults with widespread dysfunction of the exocrine glands. Characteristics include chronic pulmonary disease, pancreatic insufficiency, abnormally high levels of electrolytes in the sweat and less frequently biliary cirrhosis and diabetes mellitus.
Cystic Fibrosis is the most common lethal genetic disease.
Autosomal recessive genetic defect
Positive family history (rarely seen due to recessive nature)
Elevation of sodium and chloride concentrations in sweat (quantitative pilocarpine iontophoresis sweat test)
Genetic screening if sweat test inadequate
Stool trypsin and chymotrypsin absent or diminished
72 hour fecal fat excretion - increased fat in stool
Decreased albumin, fat soluble vitamins
CF gene screen (reference lab)
Pseudomonas in respiratory secretions
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