Liu Wanying, Xiao Yi
Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):442-446. doi: 10.3760/cma.j.cn511374-20200804-00585.
Congenital thrombotic thrombocytopenic purpura, also known as Upshaw-Schulman syndrome, is a rare autosomal recessive genetic disorder. The main pathogenesis is homozygous or compound heterozygous variants of von Willebrand factor lyase (ADAMTS13) gene mapped to chromosome 9q34, which may result in severe lack of ADAMTS13 which cleaves von Willebrand factor (vWF) multimers in the plasma and increase the risk of microvascular thrombosis, leading to various complications. The advance of research on the pathogenesis of cTTP, recombinant human ADAMTS13 and gene therapy have made breakthroughs which may lead to cure of cTTP. This article has provided a review for the latest progress made in the diagnosis and treatment of cTTP.
先天性血栓性血小板减少性紫癜，又称乌普肖-舒尔曼综合征，是一种罕见的常染色体隐性遗传病。其主要发病机制是位于9号染色体长臂3区4带的血管性血友病因子裂解酶（ADAMTS13）基因的纯合或复合杂合变异，这可能导致严重缺乏ADAMTS13，该酶可裂解血浆中的血管性血友病因子（vWF）多聚体，增加微血管血栓形成的风险，进而引发各种并发症。随着对先天性血栓性血小板减少性紫癜发病机制研究的进展，重组人ADAMTS13和基因治疗取得了突破，有望治愈先天性血栓性血小板减少性紫癜。本文对先天性血栓性血小板减少性紫癜诊断和治疗的最新进展进行了综述。
