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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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
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author Kim, Hyung Oh
Ihm, Chun-Gyoo
Jeong, Kyung Hwan
Kang, Hyun Joon
Kim, Jae-Min
Lim, Hyung Suk
Kim, Jin Sug
Lee, Tae Won
author_facet Kim, Hyung Oh
Ihm, Chun-Gyoo
Jeong, Kyung Hwan
Kang, Hyun Joon
Kim, Jae-Min
Lim, Hyung Suk
Kim, Jin Sug
Lee, Tae Won
author_sort Kim, Hyung Oh
collection PubMed
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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spelling pubmed-47376622016-02-04 A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review Kim, Hyung Oh Ihm, Chun-Gyoo Jeong, Kyung Hwan Kang, Hyun Joon Kim, Jae-Min Lim, Hyung Suk Kim, Jin Sug Lee, Tae Won Electrolyte Blood Press Case Report 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. The Korean Society of Electrolyte Metabolism 2015-12 2015-12-30 /pmc/articles/PMC4737662/ /pubmed/26848304 http://dx.doi.org/10.5049/EBP.2015.13.2.52 Text en Copyright © 2015 The Korean Society of Electrolyte Metabolism http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kim, Hyung Oh
Ihm, Chun-Gyoo
Jeong, Kyung Hwan
Kang, Hyun Joon
Kim, Jae-Min
Lim, Hyung Suk
Kim, Jin Sug
Lee, Tae Won
A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review
title A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review
title_full A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review
title_fullStr A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review
title_full_unstemmed A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review
title_short A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review
title_sort case report of familial renal hypouricemia confirmed by genotyping of slc22a12, and a literature review
topic Case Report
url 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
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