Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.
Clin Nephrol
; 81(5): 363-8, 2014 May.
Article
em En
| MEDLINE
| ID: mdl-23110775
ABSTRACT
Bartter syndrome Type IV is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and sensorineural deafness. This autosomal recessive disease is caused by mutations in the gene encoding barttin, BSND, an essential subunit of the ClC-K chloride channels expressed in renal and inner ear epithelia. Patients differ in the severity of renal symptoms, which appears to depend on the modification of channel function by the mutant barttin. To date, only a few BSND mutations have been reported, most of which are missense or nonsense mutations. In this study, we report the identification of the first insertion mutation, p.W102Vfs*7, in the BSND gene of a newborn girl with acute clinical symptoms including early-onset chronic renal failure. The results support previous data indicating that mutations that are predicted to abolish barttin expression are associated with a severe phenotype and early onset renal failure.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Bartter
/
Mutagênese Insercional
/
Canais de Cloreto
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
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Newborn
Idioma:
En
Revista:
Clin Nephrol
Ano de publicação:
2014
Tipo de documento:
Article