揭开沉默的罪魁祸首：一名患有肾功能减退症的中国青少年反复运动诱发的急性肾损伤。

IF 3 3区医学 Q1 UROLOGY & NEPHROLOGY

Renal Failure Pub Date : 2024-12-01 Epub Date: 2024-08-06 DOI:10.1080/0886022X.2024.2373271

Yuan Gao, Lu Xu, Mingming Wei, Xiaohan Qu, Tongtong Pan, Xinjian Li

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引用次数: 0

摘要

原发性肾功能减退症（RHUC）是一种罕见的常染色体隐性遗传疾病，其终末期急性肾损伤（EIAKI）的平均持续时间为 14 天。RHUC 患者急性肾损伤（EIAKI）的发病机制仍不清楚。目前已提出几种假说，包括与肾血管收缩效应和黄嘌呤氧化酶（XO）升高效应有关的假说。黄嘌呤氧化酶（XO）的作用最常在剧烈无氧运动后观察到，而剧烈无氧运动常伴有腰痛、恶心和急性肾损伤（AKI）。因此，我们推测可以通过避免剧烈运动来预防 EIAKI，从而防止 EIAKI 的发生和复发。本文介绍了一例患有 RHUC 且 SLC2A9 基因发生突变的复发性 EIAKI 患者。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Unmasking the silent culprit: recurrent exercise-induced acute kidney injury in a Chinese adolescent with renal hypouricemia.

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.

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来源期刊

Renal Failure 医学-泌尿学与肾脏学

CiteScore

3.90

自引率

13.30%

发文量

374

审稿时长

1 months

期刊介绍： Renal Failure primarily concentrates on acute renal injury and its consequence, but also addresses advances in the fields of chronic renal failure, hypertension, and renal transplantation. Bringing together both clinical and experimental aspects of renal failure, this publication presents timely, practical information on pathology and pathophysiology of acute renal failure; nephrotoxicity of drugs and other substances; prevention, treatment, and therapy of renal failure; renal failure in association with transplantation, hypertension, and diabetes mellitus.