A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia | Zendy

Martin Windpessl | Zendy; Marco Ritelli | Zendy; Manfred Wallner | Zendy; Marina Colombi | Zendy

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A Novel Homozygous <b><i>SLC2A9</i></b> Mutation Associated with Renal-Induced Hypouricemia

Author(s) -

Martin Windpessl,

Marco Ritelli,

Manfred Wallner,

Marina Colombi

Publication year - 2016

Publication title -

american journal of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.394

H-Index - 85

eISSN - 1421-9670

pISSN - 0250-8095

DOI - 10.1159/000445845

Subject(s) - hypouricemia , endocrinology , medicine , reabsorption , uric acid , kidney

Hereditary renal hypouricemia (RHUC) is a genetically heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA; acute kidney injury (AKI) and nephrolithiasis are recognized complications. Type 1 (RHUC1) is caused by mutations in the SLC22A12 gene, whereas RHUC2 is caused by mutations in the SLC2A9 gene. Patient ethnicity is diverse but only few Caucasian families with an SLC2A9 mutation have been reported.

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