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Pediatric Nephrology

, Volume 20, Issue 7, pp 886–890 | Cite as

Mutational analysis of idiopathic renal hypouricemia in Korea

  • Hae Il CheongEmail author
  • Ju Hyung Kang
  • Joo Hoon Lee
  • Il Soo Ha
  • Suhnggwon Kim
  • Fusako Komoda
  • Takashi Sekine
  • Takashi Igarashi
  • Yong Choi
Original Article

Abstract

Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally high renal uric acid clearance. Most patients are clinically silent, but acute renal failure (ARF), urolithiasis, or hematuria may develop. A defect in the SLC22A12 gene, which encodes the renal uric acid transporter, URAT1, is the known major cause of this disorder. We performed a mutational analysis of the SLC22A12 gene in five Korean patients with idiopathic renal hypouricemia in this study. Two patients presented with microscopic hematuria, one with uric acid urolithiasis, and one with exercise-induced ARF. One patient was asymptomatic. Three different mutations, W258X, R90H and R477H, were detected in four of the patients. However, no mutation was found in the fifth ARF patient. This is the first study of SLC22A12 mutations in a country other than Japan. W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan.

Keywords

Renal hypouricemia SLC22A12 gene Exercise-induced acute renal failure Urolithiasis Hematuria 

Notes

Acknowledgement

This study was supported by a grant from the Korea Health 21 R and D Project, Ministry of Health and Welfare, Republic of Korea (02-PJ1-PG3-21001-0012) and a grant from Seoul National University Hospital (03-2004-024-0).

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Copyright information

© IPNA 2005

Authors and Affiliations

  • Hae Il Cheong
    • 1
    Email author
  • Ju Hyung Kang
    • 1
  • Joo Hoon Lee
    • 1
  • Il Soo Ha
    • 1
  • Suhnggwon Kim
    • 2
  • Fusako Komoda
    • 3
  • Takashi Sekine
    • 3
  • Takashi Igarashi
    • 3
  • Yong Choi
    • 1
  1. 1.Department of PediatricsSeoul National University Children’s HospitalSeoulKorea
  2. 2.Department of Internal MedicineSeoul National University HospitalSeoulKorea
  3. 3.Department of PediatricsThe University of TokyoTokyoJapan

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