Helmholtz Gemeinschaft

Search
Browse
Statistics
Feeds

Late-onset Bartter syndrome type II

[thumbnail of Article]
Preview
PDF (Article) - Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
939kB
[thumbnail of Supplementary data]
Preview
PDF (Supplementary data) - Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
278kB

Item Type:Article
Title:Late-onset Bartter syndrome type II
Creators Name:Gollasch, B., Anistan, Y.M., Canaan-Kühl, S. and Gollasch, M.
Abstract:Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygous KCNJ1 missense mutations, consisting of a novel c.197T > A (p.I66N) and a previously reported c.875G > A (p.R292Q) KCNJ1 mutation. We implemented and evaluated the performance of two different bioinformatics-based approaches of targeted massively parallel sequencing [next generation sequencing (NGS)] in defining the molecular diagnosis. Our results demonstrate that aBS II may be suspected in patients with a late-onset phenotype. Our experimental approach of NGS-based mutation screening combined with Sanger sequencing proved to be a reliable molecular approach for defining the clinical diagnosis in our patient, and results in important differential diagnostic and therapeutic implications for patients with BS. Our results could have a significant impact on the diagnosis and methodological approaches of genetic testing in other patients with clinical unclassified phenotypes of nephrocalcinosis and congenital renal electrolyte abnormalities.
Keywords:Bartter Syndrome, Hypokalaemia, KCNJ1, Nephrocalcinosis, ROMK
Source:Clinical Kidney Journal
ISSN:1753-0784
Publisher:Oxford University Press
Volume:10
Number:5
Page Range:594-599
Date:October 2017
Official Publication:https://doi.org/10.1093/ckj/sfx033
PubMed:View item in PubMed

Repository Staff Only: item control page

Downloads

Downloads per month over past year

Open Access
MDC Library