Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Bronchiectasis with or without elevated sweat chloride 1

Bronchiectasis with or without elevated sweat chloride type 1 is an autosomal recessive disorder caused by mutations of the SCNN1B 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
SCNN1B
Bronchiectasis with or without elevated sweat chloride 2
Bronchiectasis with or without elevated sweat chloride 3

References:

1.

Casals T et al. (2004) Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?

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2.

Sheridan MB et al. (2005) Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

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3.

Viel M et al. (2008) ENaCbeta and gamma genes as modifier genes in cystic fibrosis.

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4.

Fajac I et al. (2008) Could a defective epithelial sodium channel lead to bronchiectasis.

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5.

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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6.

Danielson GK et al. (1967) Middle lobe bronchiectasis. Report of an unusual familial occurrence.

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7.

Davis PB et al. (1983) Familial bronchiectasis.

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8.

Hoo JJ et al. (1979) Familial middle lobe bronchiectasis.

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Update: Sept. 26, 2018