Description:
The sweat test is a quantitative measure of chloride in sweat, used in confirming a diagnosis of cystic fibrosis. It may be used in: patients with a phenotype suggestive of cystic fibrosis, patients with a family history of cystic fibrosis, confirmatory testing of a positive newborn screening result, suspicion of an atypical phenotype and monitoring of patients receiving treatment for Cystic Fibrosis.
Clinical details:
Cystic fibrosis is the most common lifelong autosomal recessive disease in Northern European populations with an incidence of 1:2500 births. It is less common in the American black population (1:17,000) and rare in Oriental populations (1:90 000). The incidence in the Asian population is less well known, probably around 1:10,000. The typical or classic clinical manifestations of respiratory infection and exocrine pancreatic insufficiency with elevated sweat electrolytes, result from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7. Over 1000 mutations at this locus are associated with cystic fibrosis. Clinical features associated with atypical presentation include sino-pulmonary disease, pancreatic sufficiency, idiopathic pancreatitis, isolated male infertility and heat stroke.
Synonyms or keywords:
Cystic Fibrosis, Sweat Chloride, Chloride, Sweat Test