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Takemasa Y, Hirano D, Kawakami Y, et al. Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation. CEN Case Rep. 2021;10(3):426-430doi: 10.1007/s13730-020-00566-7.
Takemasa, Y., Hirano, D., Kawakami, Y., Tokunaga, A., Umeda, C., Miwa, S., Kakegawa, D., Ito, A., & Ida, H. (2021). Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation. CEN case reports, 10(3), 426-430. https://doi.org/10.1007/s13730-020-00566-7
Takemasa, Yoichi, et al. "Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation." CEN case reports vol. 10,3 (2021): 426-430. doi: https://doi.org/10.1007/s13730-020-00566-7
Takemasa Y, Hirano D, Kawakami Y, Tokunaga A, Umeda C, Miwa S, Kakegawa D, Ito A, Ida H. Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation. CEN Case Rep. 2021 Aug;10(3):426-430. doi: 10.1007/s13730-020-00566-7. Epub 2021 Feb 22. PMID: 33616882; PMCID: PMC8271040.
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CEN Case Rep. 2021 Aug;10(3):426-430. doi: 10.1007/s13730-020-00566-7. Epub 2021 Feb 22.

Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation.

CEN case reports

Yoichi Takemasa, Daishi Hirano, Yuhei Kawakami, Ai Tokunaga, Chisato Umeda, Saori Miwa, Daisuke Kakegawa, Akira Ito, Hiroyuki Ida

Affiliations

  1. Department of Pediatrics, The Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-ku, Tokyo, 105-0003, Japan.
  2. Department of Pediatrics, The Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-ku, Tokyo, 105-0003, Japan. [email protected].
  3. Division of Nephrology, Saitama Children's Medical Center, Saitama, Japan.
  4. Department of Pediatrics, Atsugi City Hospital, Kanagawa, Japan.

PMID: 33616882 PMCID: PMC8271040 DOI: 10.1007/s13730-020-00566-7

Abstract

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 diagnosis of purpura nephritis. He was discharged following symptom alleviation. However, hyperuricemia (7-9 mg/dL) and mild renal dysfunction [creatinine-estimated glomerular filtration rate (eGFR): 80-90 mL/min/1.73 m

© 2021. Japanese Society of Nephrology.

Keywords: Autosomal dominant tubulointerstitial kidney disease; Chaperone therapy; Disulfide bridges; Familial juvenile hyperuricemic nephropathy; Uromodulin

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