Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Nephrology Unit, Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario A. Gemelli, 00168 Rome, Italy.
Int J Mol Sci. 2023 Sep 24;24(19):14496. doi: 10.3390/ijms241914496.
Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by a genetic dysregulation of the alternative complement pathway, characterized by thrombocytopenia, hemolytic anemia, and acute kidney injury, and included in the group of thrombotic microangiopathies. With the introduction of humanized monoclonal antibodies that inhibit C5 activation, the natural history of aHUS completely changed, with a better prognosis, a quick recovery of renal function, and a significant reduction of end-stage renal disease incidence. Nowadays, there is an increasing interest in the molecular and genetic bases of this severe disease. The aim of this narrative review is to provide readers with a practical guide about different possible involved genes, elucidating the specific role of each transcribed protein in the pathogenesis of aHUS. Moreover, we analyzed the main current evidence about the relationship among genetic mutations, outcomes, and the risk of recurrence of this manifold disease.
非典型溶血性尿毒症综合征（aHUS）是一种罕见的疾病，由替代补体途径的遗传失调引起，其特征是血小板减少、溶血性贫血和急性肾损伤，并被纳入血栓性微血管病组。随着抑制 C5 活化的人源化单克隆抗体的引入，aHUS 的自然病程完全改变，预后更好，肾功能迅速恢复，终末期肾病的发病率显著降低。如今，人们对这种严重疾病的分子和遗传基础越来越感兴趣。本综述的目的是为读者提供有关不同可能涉及的基因的实用指南，阐明每个转录蛋白在 aHUS 发病机制中的具体作用。此外，我们分析了关于这种多态性疾病的遗传突变、结局和复发风险之间关系的主要现有证据。
