Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

Azad AK et al. (2009) Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

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3.

Mekus F et al. (1998) Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator.

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Update: Sept. 26, 2018