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...

Descripción completa

Detalles Bibliográficos
Autores principales: Maalouli, Christian, Dahan, Karin, Devresse, Arnaud, Gillion, Valentine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486506/
https://www.ncbi.nlm.nih.gov/pubmed/34603806
http://dx.doi.org/10.1155/2021/4751099

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486506/
https://www.ncbi.nlm.nih.gov/pubmed/34603806
http://dx.doi.org/10.1155/2021/4751099

Ejemplares similares