title: A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review.
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.
authors: Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea.
authors: Hyung Oh
authors: HO
authors: Kim
authors: Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea.
authors: Chun-Gyoo
authors: CG
authors: Ihm
authors: Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea.
authors: Kyung Hwan
authors: KH
authors: Jeong
authors: Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea.
authors: Hyun Joon
authors: HJ
authors: Kang
authors: Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea.
authors: Jae-Min
authors: JM
authors: Kim
authors: Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea.
authors: Hyung Suk
authors: HS
authors: Lim
authors: Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea.
authors: Jin Sug
authors: JS
authors: Kim
authors: Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea.
authors: Tae Won
authors: TW
authors: Lee
keywords: Acute kidney injury; Familial renal hypouricemia; SLC22A12; URAT1