| Literature DB >> 26848304 |
Hyung Oh Kim1, Chun-Gyoo Ihm1, Kyung Hwan Jeong1, Hyun Joon Kang1, Jae-Min Kim1, Hyung Suk Lim1, Jin Sug Kim1, Tae Won Lee1.
Abstract
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 that he had undertaken exercise prior to the acute kidney injury (AKI) event, and he stated that family members had a history of urolithiasis. His renal profile improved after hydration and supportive care during hospitalization. Although the patient was subsequently admitted again due to AKI, his status recovered with similar treatment. Since the diagnosis of the patient was familial renal hypouricemia with exercise-induced AKI, we performed genotyping of SLC22A12, which encodes human urate transporter 1. The diagnosis was confirmed by the detection of a homozygous mutation of W258X. We herein, report a case of familial renal hypouricemia confirmed by genotyping of SLC22A12, and review the relevant literature.Entities:
Keywords: Acute kidney injury; Familial renal hypouricemia; SLC22A12; URAT1
Year: 2015 PMID： 26848304 PMCID： PMC4737662 DOI： 10.5049/EBP.2015.13.2.52
Source DB: PubMed Journal: Electrolyte Blood Press ISSN： 1738-5997