" /> Bronchiectasis with or without elevated sweat chloride 2 - CISMeF





Preferred Label : Bronchiectasis with or without elevated sweat chloride 2;

Symbol : BESC2;

CISMeF acronym : BESC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cystic fibrosis-like syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium channel, nonvoltage-gated 1, alpha gene (SCNN1A, 600228.0006);

Laboratory abnormalities : Elevated sweat chloride (some); Increased nasal-potential difference (some); Normal exocrine pancreatic function;

Prefixed ID : #613021;

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29/07/2025


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