Case Report : A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review

Case Report : A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review

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 me...

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Veröffentlicht in:Electrolyte & blood pressure : E & BP 2015-12, Vol.13 (2), p.52
Hauptverfasser: Hyung Oh Kim, Chun Gyoo Ihm, Kyung Hwan Jeong, Hyun Joon Kang, Jae Min Kim, Hyung Suk Lim, Jin Sug Kim, Tae Won Lee
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Acute kidney injury
Familial renal hypouricemia
SLC22A12
URAT1
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container_issue 2
container_start_page 52
container_title Electrolyte & blood pressure : E & BP
container_volume 13
creator Hyung Oh Kim
Chun Gyoo Ihm
Kyung Hwan Jeong
Hyun Joon Kang
Jae Min Kim
Hyung Suk Lim
Jin Sug Kim
Tae Won Lee
description 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.
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source KoreaMed Synapse; KoreaMed Open Access; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; PubMed Central Open Access
subjects Acute kidney injury
Familial renal hypouricemia
SLC22A12
URAT1
title Case Report : A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review
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