First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD

Uromodulin (UMOD) gene mutation causes autosomal dominant Uromodulin-Associated Kidney Disease (UAKD), which in turn leads to end-stage renal disease. This is the first case report of a family with UAKD caused by a novel de novo mutation (E197X) in the UMOD gene. This case is a 28-year-old man with...

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Autores principales: Malakoutian, Tahereh, Amouzegar, Atefeh, Vali, Farzaneh, Asgari, Mojgan, Behnam, Babak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968202/
https://www.ncbi.nlm.nih.gov/pubmed/27489562
http://dx.doi.org/10.4172/1747-0862.1000218
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author Malakoutian, Tahereh
Amouzegar, Atefeh
Vali, Farzaneh
Asgari, Mojgan
Behnam, Babak
author_facet Malakoutian, Tahereh
Amouzegar, Atefeh
Vali, Farzaneh
Asgari, Mojgan
Behnam, Babak
author_sort Malakoutian, Tahereh
collection PubMed
description Uromodulin (UMOD) gene mutation causes autosomal dominant Uromodulin-Associated Kidney Disease (UAKD), which in turn leads to end-stage renal disease. This is the first case report of a family with UAKD caused by a novel de novo mutation (E197X) in the UMOD gene. This case is a 28-year-old man with severely reduced kidney function [1]. No similar case was reported in his family history. This report highlights and reminds the importance of genetic screening in young patients involving kidney dysfunction, as the UAKD and some other kidney genetic diseases may be late-onset.
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spelling pubmed-49682022016-08-01 First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD Malakoutian, Tahereh Amouzegar, Atefeh Vali, Farzaneh Asgari, Mojgan Behnam, Babak J Mol Genet Med Article Uromodulin (UMOD) gene mutation causes autosomal dominant Uromodulin-Associated Kidney Disease (UAKD), which in turn leads to end-stage renal disease. This is the first case report of a family with UAKD caused by a novel de novo mutation (E197X) in the UMOD gene. This case is a 28-year-old man with severely reduced kidney function [1]. No similar case was reported in his family history. This report highlights and reminds the importance of genetic screening in young patients involving kidney dysfunction, as the UAKD and some other kidney genetic diseases may be late-onset. 2016-05-29 2016-06 /pmc/articles/PMC4968202/ /pubmed/27489562 http://dx.doi.org/10.4172/1747-0862.1000218 Text en http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Article
Malakoutian, Tahereh
Amouzegar, Atefeh
Vali, Farzaneh
Asgari, Mojgan
Behnam, Babak
First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
title First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
title_full First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
title_fullStr First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
title_full_unstemmed First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
title_short First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
title_sort first report of familial juvenile hyperuricemic nephropathy (fjhn) in iran caused by a novel de novo mutation (e197x) in umod
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4968202/
https://www.ncbi.nlm.nih.gov/pubmed/27489562
http://dx.doi.org/10.4172/1747-0862.1000218
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