A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
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DOI: 10.1186/s12887-018-1185-9
Abstract: BackgroundRenal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute… read more here.
Keywords: variant; hypouricemia; renal hypouricemia; gene ... See more keywords
Characterization of Urate Metabolism and Complications of Patients with Renal Hypouricemia.
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DOI: 10.2169/internalmedicine.0457-22
Abstract: Background Both renal hypouricemia (RHU) and gout are associated with renal dysfunction and urolithiasis. The difference in renal complications associated with RHU and gout, however, has not been studied. We characterized the urate metabolism and… read more here.
Keywords: complications patients; renal hypouricemia; urate metabolism; metabolism complications ... See more keywords
Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia
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DOI: 10.3390/biomedicines10071584
Abstract: Renal hypouricemia is a disease caused by the dysfunction of renal urate transporters. This disease is known to cause exercise-induced acute kidney injury, but its mechanism has not yet been established. To analyze the mechanism… read more here.
Keywords: renal hypouricemia; acute kidney; kidney injury; hypouricemia ... See more keywords
Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia
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DOI: 10.3390/biomedicines10071696
Abstract: A genetic defect in urate transporter 1 (URAT1) is the major cause of renal hypouricemia (RHUC). Although RHUC is detected using a serum uric acid (UA) concentration read more here.
Keywords: renal hypouricemia; epidemiological features; basis epidemiological; hypouricemia ... See more keywords