Browse

Mutational analysis of idiopathic renal hypouricemia in Korea

Cited 54 time in Web of Science Cited 58 time in Scopus
Authors
Cheong, Hae Il; Kang, Ju Hyung; Lee, Joo Hoon; Ha, Il Soo; Kim, Suhnggwon; Komoda, Fusako; Sekine, Takashi; Igarashi, Takashi; Choi, Yong
Issue Date
2005-05-25
Publisher
Springer Verlag
Citation
Pediatr Nephrol. 2005 Jul;20(7):886-90. Epub 2005 May 24.
Keywords
AdolescentAdultArginineAsian Continental Ancestry Group/*geneticsBase SequenceCarrier Proteins/*geneticsChildDNA Mutational AnalysisExerciseFemaleHematuria/etiologyHistidineHumansKidney Diseases/*blood/complications/*genetics/radiographyKidney Failure, Acute/complications/etiologyMaleMolecular Sequence Data*MutationOrganic Anion Transporters/*geneticsOrganic Cation Transport ProteinsTomography, X-Ray ComputedTryptophanUric Acid/*bloodUrinary Calculi/etiology
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.
ISSN
0931-041X (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15912381

http://hdl.handle.net/10371/26076
DOI
https://doi.org/10.1007/s00467-005-1863-3
Files in This Item:
There are no files associated with this item.
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse