First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
- Corresponding Author:
- Babak Behnam
NIH Undiagnosed Diseases Program
Office of the Clinical Director, National Human
Genome Research Institute (NHGRI), National
Institute of Health (NIH), Bethesda, MD 20892, USA
E-mail: [email protected]
Received date: May 12, 2016; Accepted date: May 24, 2016; Published date: May 29, 2016
Citation: Malakoutian T, Amouzegar A, Vali F, Asgari M, Behnam B (2016) First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD. J Mol Genet Med 10:218. doi:10.4172/1747-0862.1000218
Copyright: © 2016 Malakoutian T, et al. 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.
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 . 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.