PDF(Pubmed)
Abstract：
Primary renal hypouricemia (RHUC) is a rare autosomal recessive disorder with a mean duration of end-stage acute kidney injury (EIAKI) of 14 days. The pathogenesis of EIAKI in patients with RHUC remains unclear. Several hypotheses have been proposed, including those related to the renal vasoconvulsive effect and the elevating effect of xanthine oxidase (XO). The effect of xanthine oxidase (XO) is most often observed following strenuous anaerobic exercise, which is frequently accompanied by low back pain, nausea, and acute kidney injury (AKI). Consequently, we postulate that EIAKI could be prevented by avoiding strenuous exercise, thus preventing the onset and recurrence of EIAKI. In this paper, we present a case of recurrent EIAKI in a patient with RHUC and a mutation in the SLC2A9 gene.
摘要：
原发性肾性低尿酸血症（RHUC）是一种罕见的常染色体隐性遗传疾病，终末期急性肾损伤（EIAKI）的平均持续时间为14天。EIAKI在RHUC患者中的发病机制尚不清楚。已经提出了几个假设，包括与肾血管惊厥作用和黄嘌呤氧化酶（XO）升高作用有关的那些。黄嘌呤氧化酶（XO）的作用最常见于剧烈的无氧运动后，经常伴有腰痛，恶心,急性肾损伤（AKI）。因此,我们假设EIAKI可以通过避免剧烈运动来预防，从而防止EIAKI的发作和复发。在本文中,我们报道了一例RHUC患者复发的EIAKI病例,并在SLC2A9基因突变.
