关键词: 肾性低尿酸血症, SLC22A12 基因, 基因突变, 急性肾损伤

Abstract:

A young man was admitted to hospital for abnormal urine test findings lasting 25 days. Microscopic hematuria was identified in multiple outpatient physical examinations, with no obvious positive symptoms or signs. Laboratory tests after admission revealed significant hypouricemia and a markedly elevated fractional excretion of urate, leading to a diagnosis of renal hypouricemia (RHUC). Genetic analysis identified compound heterozygous mutations in the SLC22A12 gene: c.269 G>A (p.Arg90His) and c.490 G>A (p.Gly164Ser), inherited from the father and mother, respectively. This finding is consistent with an autosomal recessive inheritance pattern, confirming the diagnosis of type Ⅰ RHUC. Serum uric acid measurement should be considered in the routine workup for unexplained microscopic hematuria. The finding of RHUC complicated with a high FEUA should raise suspicion for type Ⅰ RHUC. Prompt genetic diagnosis is crucial for definitive subtyping, facilitating family genetic counseling and guiding patient management, including preventive measures against exercise⁃induced acute kidney injury.