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Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity

BACKGROUND: Familial renal hypouricemia (RHUC) is a hereditary disease characterized by hypouricemia, high renal fractional excretion of uric acid (FE-UA) and can be complicated by acute kidney failure and nephrolithiasis. Loss-of-function mutations in the SLC22A12 gene cause renal hypouricemia type...

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Detalles Bibliográficos
Autores principales: Jeannin, Guido, Chiarelli, Nicola, Gaggiotti, Mario, Ritelli, Marco, Maiorca, Paolo, Quinzani, Stefano, Verzeletti, Federica, Possenti, Stefano, Colombi, Marina, Cancarini, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890613/
https://www.ncbi.nlm.nih.gov/pubmed/24397858
http://dx.doi.org/10.1186/1471-2350-15-3