Hisatome I, Tsuboi M, Shigemasa C
1st Department of Medicine, Tottori University.
Nihon Rinsho. 1996 Dec;54(12):3337-42.
Renal hypouricemia (serum urate < 2.0 mg/dl) is the inborn disorder due to the impaired tubular urate transport resulted in an increased urate excretion. The inheritance shows an autosomal recessive trait. The prevalence of renal hypouricemia is 0.15% in the outpatients. Based on the 4-component model, by using the pharmacological inhibitor, renal hypouricemia is classified into the 4 types as follows, 1) defective presecretory reabsorption, 2) defective postsecretory reabsorption, 3) enhanced urate secretion, and 4) both defective presecretory and postsecretory reabsorption including the three subtypes. Although renal hypouricemia has asymptomatic as usual, acute renal failure and urolithiasis (hematuria) have been reported as the complication. We further introduced the novel pathophysiology of the renal hypouricemia such as the aciduria correlating to the accelerated urate excretion and the hyperoxipurinemia in this review.
肾性低尿酸血症(血清尿酸盐<2.0mg/dl)是一种先天性疾病,由于肾小管尿酸转运受损导致尿酸排泄增加。其遗传方式为常染色体隐性遗传。门诊患者中肾性低尿酸血症的患病率为0.15%。基于四成分模型,通过使用药理抑制剂,肾性低尿酸血症可分为以下4种类型:1)分泌前重吸收缺陷;2)分泌后重吸收缺陷;3)尿酸分泌增加;4)分泌前和分泌后重吸收均有缺陷,包括三个亚型。尽管肾性低尿酸血症通常无症状,但已有报道称其并发症包括急性肾衰竭和尿路结石(血尿)。在本综述中,我们进一步介绍了肾性低尿酸血症的新病理生理学,如与尿酸排泄加速相关的酸性尿和高氧嘌呤血症。