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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.
Juvenile hyperuricemic nephropathy, Mutation, Genetic screening, Kidney dysfunction, Bioactive Compound, Cellular Medicine, Epigenomics, Gene Therapy, Genetic Engineering in Medicine, Genomic Medicine, Human Molecular Genetics, Medicinal Biotechnology, Metabolomics, Molecular Basis of Cancer, Molecular Basis of Obesity, Molecular Diagnosis, Molecular Genetic Test, Molecular Medicine, Nuclear Medicine