Bronchiectasis with or without elevated sweat chloride type 3 is an autosomal recessive disorder caused by mutations of the SCNN1G gene. Mutations not only account for a systic fibrosis-like disease but also typical cystic fibrosis can be aggravated.
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Fajac I et al. (2008) Could a defective epithelial sodium channel lead to bronchiectasis. |
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OMIM.ORG article Omim 613071 |