A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia

Conclusion: We report the identification of a novel mutation in SLC2A9 as the cause of RHUC2 in a native Austrian family. We show that glucose transporter 9 mutations cause severe hypouricemia in homozygous individuals and confirm the high risk of AKI in male individuals harbouring these mutations. In our literature review, we provide an overview of the putative underlying pathophysiology, potential renal complications, findings on kidney biopsy as well as potential long-time renal sequelae.Am J Nephrol 2016;43:245-250
Source: American Journal of Nephrology - Category: Neurology Source Type: research