Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Bronchiectasis with or without elevated sweat chloride

Bronchiectasis with or without elevated sweat chloride are autosomal recessive disorders caused by mutations of genes encoding the sodium channel ENaC (SCNN1A, SCNN1B, SCNN1G,). Mutations not only account for a systic fibrosis-like disease but also typical cystic fibrosis can be aggravated.

Systematic

Hereditary broncho-pulmonary disease
Bronchiectasis with or without elevated sweat chloride
Bronchiectasis with or without elevated sweat chloride 1
SCNN1B
Bronchiectasis with or without elevated sweat chloride 2
SCNN1A
Bronchiectasis with or without elevated sweat chloride 3
SCNN1G
Cystinosis
Fabry disease
Hereditary pulmonary embolism
Pulmonary alveolar microlithiasis
Reduced response to beta-2-adrenoreceptor agonist
Susceptibility to nocturnal asthma

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