Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

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Authors
Clissold, Rhian L.
Clarke, H. C.
Spasic-Boskovic, O.
Brugger, K.
Abbs, S.
Bingham, Coralie
Shaw-Smith, Charles
Journal
BMC Nephrology
Type
Case Report
Publisher
BioMed Central
Rights
Archived with thanks to BMC nephrology. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the published literature to date. We report a novel dominant REN mutation discovered in an individual after forty years of renal disease.
Citation
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report. 2017, 18 (1):234 BMC Nephrol
Note
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