title: Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.
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).
authors.affiliation: Department of Pediatrics, Nephrology Division, Hopital Ste-Justine, Montreal, QC, H3T 1C5, Canada. probitaillemd@hotmail.com
authors.forename: Pierre
authors.initials: P
authors.lastname: Robitaille
authors.forename: Aicha
authors.initials: A
authors.lastname: Merouani
authors.forename: Ning
authors.initials: N
authors.lastname: He
authors.forename: York
authors.initials: Y
authors.lastname: Pei
mesh_terms: D001477:Bartter Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D018118:Chloride Channels / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D020125:Mutation, Missense; D010641:Phenotype; D035781:Siblings
chemical_list: C412733:CLCNKB protein, human; D018118:Chloride Channels