PDF(Pubmed)
Abstract：
UNASSIGNED: Hereditary thrombotic thrombocytopenic purpura (hTTP) is caused by deficiency of plasma ADAMTS13 activity, resulting from ADAMTS13 mutations. ADAMTS13 cleaves ultra large von Willebrand factor (VWF), thus reducing its multimer sizes. Hereditary deficiency of plasma ADAMTS13 activity leads to the formation of excessive platelet-VWF aggregates in small arterioles and capillaries, resulting in hTTP.
UNASSIGNED: PubMed search from 1956 to 2024 using thrombotic thrombocytopenic purpura and therapy identified 3,675 articles. Only the articles relevant to the topic were selected for discussion, which focuses on pathophysiology, clinical presentations, and mechanisms of action of emerging therapeutics for hTTP. Current therapies include infusion of plasma, or coagulation factor VIII, or recombinant ADAMTS13. Emerging therapies include anti-VWF A1 aptamers or nanobody and gene therapies with adeno-associated viral vector or self-inactivated lentiviral vector or a sleeping beauty transposon system for a long-term expression of a functional ADAMTS13 enzyme.
UNASSIGNED: Frequent plasma infusion remains to be the standard of care in most parts of the world, while recombinant ADAMTS13 has become the treatment of choice for hTTP in some of the Western countries. The success of gene therapies in preclinical models may hold a promise for future development of these novel approaches for a cure of hTTP.
UNASSIGNED: PubMed search from 1956 to 2024 using thrombotic thrombocytopenic purpura and therapy identified 3,675 articles. Only the articles relevant to the topic were selected for discussion, which focuses on pathophysiology, clinical presentations, and mechanisms of action of emerging therapeutics for hTTP. Current therapies include infusion of plasma, or coagulation factor VIII, or recombinant ADAMTS13. Emerging therapies include anti-VWF A1 aptamers or nanobody and gene therapies with adeno-associated viral vector or self-inactivated lentiviral vector or a sleeping beauty transposon system for a long-term expression of a functional ADAMTS13 enzyme.
UNASSIGNED: Frequent plasma infusion remains to be the standard of care in most parts of the world, while recombinant ADAMTS13 has become the treatment of choice for hTTP in some of the Western countries. The success of gene therapies in preclinical models may hold a promise for future development of these novel approaches for a cure of hTTP.
摘要：
■遗传性血栓性血小板减少性紫癜（hTTP）是由血浆ADAMTS13活性缺乏引起的，由ADAMTS13突变引起。ADAMTS13切割超大型血管性血友病因子(VWF)，从而减少其多聚体大小。血浆ADAMTS13活性的遗传性缺乏导致在小动脉和毛细血管中形成过多的血小板-VWF聚集体,导致hTTP。
■PubMed从1956-2024年使用血栓性血小板减少性紫癜和治疗进行搜索，确定了3,675篇文章。只选择与主题相关的文章进行讨论,专注于病理生理学，临床表现,以及新兴治疗hTTP的作用机制。目前的治疗包括血浆输注，或凝血因子VIII，或重组ADAMTS13。新兴疗法包括抗VWFA1适体或纳米抗体以及用腺相关病毒载体或自灭活慢病毒载体或睡美人转座子系统进行的基因疗法，用于长期表达功能性ADAMTS13酶。
■在世界大部分地区，频繁的血浆输注仍然是护理标准，而重组ADAMTS13已成为一些西方国家hTTP的首选治疗方法。基因治疗在临床前模型中的成功可能为未来开发这些治疗hTTP的新方法带来希望。
■PubMed从1956-2024年使用血栓性血小板减少性紫癜和治疗进行搜索，确定了3,675篇文章。只选择与主题相关的文章进行讨论,专注于病理生理学，临床表现,以及新兴治疗hTTP的作用机制。目前的治疗包括血浆输注，或凝血因子VIII，或重组ADAMTS13。新兴疗法包括抗VWFA1适体或纳米抗体以及用腺相关病毒载体或自灭活慢病毒载体或睡美人转座子系统进行的基因疗法，用于长期表达功能性ADAMTS13酶。
■在世界大部分地区，频繁的血浆输注仍然是护理标准，而重组ADAMTS13已成为一些西方国家hTTP的首选治疗方法。基因治疗在临床前模型中的成功可能为未来开发这些治疗hTTP的新方法带来希望。
