Bronchiectasis with or without elevated sweat chloride 2
Bronchiectasis with or without elevated sweat chloride type 2 is an autosomal recessive disorder caused by mutations of the SCNN1A gene. Mutations not only account for a systic fibrosis-like disease but also typical cystic fibrosis can be aggravated.
Systematic
References:
1. |
Mutesa L et al. (2009) Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. [^] |
2. |
Azad AK et al. (2009) Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. [^] |
3. |
Mekus F et al. (1998) Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. [^] |
4. |
OMIM.ORG article Omim 613021 [^] |
Update: May 9, 2019