A case of renal hypouricemia due to <scp>T</scp>217<scp>M</scp> mutation in <scp>SLC</scp>22<scp>A</scp>12 incidentally associated with I<scp>g</scp>A nephropathy-Reference-Cited by-同舟云学术

A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy

Published:2024-08-27 Issue:9 Volume:12 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Sakurabu Yoshimasa¹^ORCID,Uchida Haruhito A.¹²,Tahara Toshihisa¹,Asakawa Tomohiko¹,Yamasaki Haruka¹³,Katayama Katsuyoshi¹,Okamoto Shugo¹,Onishi Yasuhiro¹,Matsuoka‐Uchiyama Natsumi¹,Tanaka Keiko¹,Takeuchi Hidemi¹,Tsuji Kenji¹,Umebayashi Ryoko¹,Ohashi Yuki⁴⁵,Ichida Kimiyoshi⁴,Wada Jun¹

Affiliation:

1. Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan

2. Department of Chronic Kidney Disease and Cardiovascular Disease Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan

3. Department of Internal Medicine Kagawa Rosai Hospital Marugame Kagawa Japan

4. Department of Pathophysiology Tokyo University of Pharmacy and Life Sciences Tokyo Japan

5. Public Health Informatics Unit, Department of Integrated Health Sciences, Graduate School of Medicine Nagoya University Nagoya Aichi Japan

Abstract

Key Clinical MessageA T217M heterozygous mutation in the SLC22A12 gene caused renal hypouricemia; this patient with IgA nephropathy had no findings other than IgA nephropathy on renal biopsy. Hypouricemia was susceptible to oxidative stress, but IgA nephropathy in the patient with hypouricemia could be treated with steroid pulse therapy without adverse events.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.9368

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