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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Detalles Bibliográficos
Autores principales: Kim, Hyung Oh, Ihm, Chun-Gyoo, Jeong, Kyung Hwan, Kang, Hyun Joon, Kim, Jae-Min, Lim, Hyung Suk, Kim, Jin Sug, Lee, Tae Won
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Electrolyte Metabolism 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737662/
https://www.ncbi.nlm.nih.gov/pubmed/26848304
http://dx.doi.org/10.5049/EBP.2015.13.2.52
Descripción
Sumario: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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