Acute kidney injury associated with severe hypouricemia caused by a novel SLC2A9 mutation: Enlightenment from rare disease to common disease

[摘要] Hypouricemia is defined as serum uric acid(UA) <2.0 mg/dL. It is an uncommoncondition with a prevalence ranging from0.19% to 0.58%.[1] The mechanisms ofhypouricemia include decreased productionof UA and increased UA excretion via thekidneys. Hereditary renal hypouricemia(RHUC) is a rare autosomal hereditarydisorder caused by recessive mutationsin genes encoding UA transporters in theproximal renal tubule. Patients with RHUCare often asymptomatic, but some patientscan develop exercise-induced acute renalfailure (EIAKI). We present a young Chineseman who presented with EIAKI associatedwith RHUC and report a novel mutation.