Article
Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation.
CEN case reports - 1 Aug 2021
Takemasa Yoichi, Hirano Daishi, Kawakami Yuhei, Tokunaga Ai, Umeda Chisato, Miwa Saori, Kakegawa Daisuke, Ito Akira, Ida Hiroyuki
Abstract excerpt
Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin (UMOD) gene. It is characterized by the development of gout, tubulointerstitial nephropathy, and end-stage renal disease. Here we report a case of FJHN that was diagnosed in early childhood in a boy with a novel gene mutation. At the age of 4 years, the patient was admitted with a...
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