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

Bronchiectasis with or without elevated sweat chloride
	Bronchiectasis with or without elevated sweat chloride 1
	Bronchiectasis with or without elevated sweat chloride 2
		SCNN1A
	Bronchiectasis with or without elevated sweat chloride 3

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: April 29, 2019