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European Journal of Pediatrics
Published in: European Journal of Pediatrics 9/2011

01-09-2011 | Short Report

Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness

Authors: Pierre Robitaille, Aicha Merouani, Ning He, York Pei

Published in: European Journal of Pediatrics | Issue 9/2011

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Abstract

This article describes two sisters with type III Bartter syndrome (BS) due to a novel missense variant of the CLCNKB gene. The phenotypic expression of the disease was very different in these two siblings. In one sister, the disease followed a very severe course, especially in the neonatal period and as a toddler. Both the classic symptoms and the biochemical features of the syndrome were striking. In addition, she presented with sensorineural deafness, a complication yet unreported in this subtype of BS In contrast, the least affected sister was symptom free and the biochemical features of the disease although present remained discrete throughout the prolonged follow-up. It is suggested that such a difference in the phenotypic expression of the disease is possibly secondary to the modifier effect of a gene and/or results from environmental factor(s).
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Metadata
Title
Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness
Authors
Pierre Robitaille
Aicha Merouani
Ning He
York Pei
Publication date
01-09-2011
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 9/2011
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-011-1464-z

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