Mutation in the SLC2A9 Gene: A New Family with Familial Renal Hypouricemia Type 2

Familial renal hypouricemia is a rare genetic disorder characterized by a defect in renal tubular urate reabsorption. Some patients present with exercise-induced acute kidney injury and nephrolithiasis. Type II is caused by mutations in the SLC2A9 gene. Here, we report the case of a young patient wh...

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Bibliographic Details
Main Authors: Christian Maalouli, Karin Dahan, Arnaud Devresse, Valentine Gillion
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Case Reports in Nephrology
Online Access:http://dx.doi.org/10.1155/2021/4751099
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