Open AccessFirst Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
Author(s) -
Tahereh Malakoutian,
Atefeh Amouzegar,
Farzaneh Vali,
Mojgan Asgari,
Babak Behnam
Publication year - 2016
Publication title -
journal of molecular and genetic medicine
Language(s) - English
Resource type - Journals
ISSN - 1747-0862
DOI - 10.4172/1747-0862.1000218
Subject(s) - tamm–horsfall protein , mutation , medicine , genetics , disease , distal convoluted tubule , kidney , genetic testing , family history , biology , bioinformatics , gene , nephron
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.