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载脂蛋白L1相关性肾病:来自改善全球肾脏病预后组织(KDIGO)争议会议的结论

APOL1 kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

作者信息

Ojo Akinlolu O, Adu Dwomoa, Bramham Kate, Freedman Barry I, Gbadegesin Rasheed A, Ilori Titilayo O, Jefferson Nichole, Olabisi Opeyemi A, Susztak Katalin, Young Bessie A, Cheung Michael, King Jennifer M, Grams Morgan E, Jadoul Michel, Ulasi Ifeoma I

机构信息

University of Kansas School of Medicine, Kansas City, Kansas, USA.

Department of Medicine and Therapeutics, School of Medicine, College of Health Sciences, University of Ghana, Accra, Ghana.

出版信息

Kidney Int. 2025 Jun 23. doi: 10.1016/j.kint.2025.05.017.

Abstract

In people of African ancestry, apolipoprotein L1 gene (APOL1) variants have been identified as causing increased risk of progressive chronic kidney disease (CKD). In April of 2024, Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference on APOL1 Kidney Disease in Accra, Ghana. The goals of the conference were to review and discuss current evidence and controversies on APOL1 kidney disease, including naming, epidemiology, pathophysiology, APOL1 testing, treatment, and future research needs. Participants considered various terminologies for diseases related to APOL1 risk variants (such as APOL1-mediated or -induced kidney disease) and had highest support for using APOL1 kidney disease to describe kidney pathologies associated with the APOL1 G1 and G2 risk variants. Clinically, the term APOL1 kidney disease can be used on its own or as an overall category of kidney disease, with further specification added as needed (for example, APOL1 kidney disease, focal segmental glomerulosclerosis). Given that there currently are no established treatments for APOL1 kidney disease, and APOL1 genotype results are not by themselves actionable, there is insufficient evidence to guide recommendations for APOL1 population screening or routine testing. However, genotyping can be an important clinical consideration for individuals to inform risk stratification, frequency of follow-up, living kidney donation, as well as clinical trial eligibility. Key areas of need and strategies for future research were delineated and are reported here.

摘要

在非洲裔人群中,载脂蛋白L1基因(APOL1)变异已被确定为导致进行性慢性肾脏病(CKD)风险增加的原因。2024年4月,改善全球肾脏病预后组织(KDIGO)在加纳阿克拉召开了一次关于APOL1肾病的争议会议。会议的目标是审查和讨论关于APOL1肾病的现有证据和争议,包括命名、流行病学、病理生理学、APOL1检测、治疗以及未来的研究需求。与会者考虑了与APOL1风险变异相关疾病的各种术语(如APOL1介导或诱导的肾病),其中使用APOL1肾病来描述与APOL1 G1和G2风险变异相关的肾脏病理情况获得了最高支持。在临床上,APOL1肾病这个术语可以单独使用,也可作为肾病的一个总体类别,并根据需要添加进一步的具体说明(例如,APOL1肾病,局灶节段性肾小球硬化)。鉴于目前尚无针对APOL1肾病的确立治疗方法,且APOL1基因型结果本身并无实际指导意义,因此尚无足够证据来指导关于APOL1人群筛查或常规检测的建议。然而,基因分型对于个体的风险分层、随访频率、活体肾捐赠以及临床试验资格来说,可能是一项重要的临床考量因素。本文阐述并报告了未来研究的关键需求领域和策略。

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