Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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
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