bronchiectasis with or without elevated sweat chloride 2
A rare inherited respiratory disorder (OMIM:613021) characterised by chronic abnormal bronchial dilation and other cystic fibrosis-like symptoms in absence of known causes of bronchiectasis.
Clinical findings Subnormal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some patients.
Molecular pathology Defects of SCNN1A, which encodes the alpha subunit of a nonvoltage-gated, amiloride-sensitive sodium channel that controls fluid and electrolyte transport across epithelia in the kidney, lung, and other tissues, cause bronchiectasis with or without elevated sweat chloride 2
Synonyms BESC2, cystic fibrosis-like syndrome