Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Cell Biology Program, SickKids Research Institute, Toronto, Ontario, Canada.
Clin J Am Soc Nephrol. 2021 Jun;16(6):942-956. doi: 10.2215/CJN.11830720. Epub 2021 Feb 3.
In the past 20 years, we have witnessed tremendous advances in our ability to diagnose and treat genetic diseases of the kidney caused by complement dysregulation. Staggering progress was realized toward a better understanding of the genetic underpinnings and pathophysiology of many forms of atypical hemolytic uremic syndrome (aHUS) and C3-dominant glomerulopathies that are driven by complement system abnormalities. Many of these seminal discoveries paved the way for the design and characterization of several innovative therapies, some of which have already radically improved patients' outcomes. This review offers a broad overview of the exciting developments that have occurred in the recent past, with a particular focus on single-gene (or Mendelian), complement-driven aHUS and C3-dominant glomerulopathies that should be of interest to both nephrologists and kidney researchers. The discussion is restricted to genes with robust associations with both aHUS and C3-dominant glomerulopathies (complement factor H, complement component 3, complement factor H-related proteins) or only aHUS (complement factor B, complement factor I, and membrane cofactor protein). Key questions and challenges are highlighted, along with potential avenues for future directions.
在过去的 20 年中,我们见证了在诊断和治疗由补体失调引起的肾脏遗传疾病方面的巨大进展。在更好地理解许多非典型溶血性尿毒症综合征 (aHUS) 和 C3 主导的肾小球病的遗传基础和病理生理学方面取得了惊人的进展,这些疾病是由补体系统异常驱动的。这些开创性的发现为设计和表征几种创新疗法铺平了道路,其中一些已经从根本上改善了患者的预后。这篇综述广泛概述了最近发生的令人兴奋的发展,特别关注单基因(或孟德尔)、补体驱动的 aHUS 和 C3 主导的肾小球病,这应该引起肾脏病学家和肾脏研究人员的兴趣。讨论仅限于与 aHUS 和 C3 主导的肾小球病(补体因子 H、补体成分 3、补体因子 H 相关蛋白)均有很强关联或仅与 aHUS (补体因子 B、补体因子 I 和膜辅因子蛋白)有很强关联的基因。突出了关键问题和挑战,并提出了未来的潜在方向。