title: First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a NovelDe NovoMutation (E197X) inUMOD.
abstract: 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 novelde novomutation (E197X) in theUMODgene. 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.
authors.affiliation: Hasheminejad Kidney Center, Hospital Management Research Center, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Tahereh
authors.initials: T
authors.lastname: Malakoutian
authors.affiliation: Hasheminejad Kidney Center, Hospital Management Research Center, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Atefeh
authors.initials: A
authors.lastname: Amouzegar
authors.affiliation: Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Vali
authors.affiliation: Hasheminejad Kidney Center, Hospital Management Research Center, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Mojgan
authors.initials: M
authors.lastname: Asgari
authors.affiliation: Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran.
authors.forename: Babak
authors.initials: B
authors.lastname: Behnam
keywords: Genetic screening; Juvenile hyperuricemic nephropathy; Kidney dysfunction; Mutation