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A Case of Idiopathic Renal Hypouricemia with SLC22A12 Gene Mutation Showing General Weakness and Incidental Renal Stone

Joung JW, Song YW, Kim JD, Cheon EJ

Idiopathic renal hypouricemia (iRHUC) is a rare hereditary disease caused by a defect in urate handling of renal tubules. Type 1 renal hypouricemia (RHUC1) is diagnosed with confirmation of a...
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A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review

Kim HO, Ihm CG, Jeong KH, Kang HJ, Kim JM, Lim HS, Kim JS, Lee TW

A 24-year-old male visited our hospital because of pain in both flanks. His biochemistry profile showed an elevated serum creatinine level and low serum uric acid level. History taking revealed...
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A Case of Idiopathic Renal Hypouricemia with URAT1 Gene Mutation who Showed Persistent Orange-colored Urine

Lee JH, Choi JH, Park YS, Yoo HW, Jeong JY

  • KMID: 1578221
  • J Korean Soc Pediatr Nephrol.
  • 2006 Apr;10(1):65-71.
Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. Most patients with hypouricemia are asymptomatic and are found incidentally, but the condition is known...
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