托法替布治疗进行性骨化性纤维发育不良患者的成功经验。
Successful experience of tofacitinib treatment in patients with Fibrodysplasia Ossificans Progressiva.
机构信息
V.A. Nasonova Research Institute of Rheumatology, Kashirskoe shosse, 34A, Moscow, 115522, Russia.
Hospital Pediatry Department of Saint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russia.
出版信息
Pediatr Rheumatol Online J. 2023 Aug 29;21(1):92. doi: 10.1186/s12969-023-00856-1.
Abstract
Fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disorder that is caused by a mutation in the ACVR1 gene and provokes severe heterotopic ossification. Since flares of the disease are associated with inflammation, it is assumed that JAK inhibitors can control active FOP due to blocking multiple signaling pathways.
摘要
进行性骨化性纤维发育不良（FOP）是一种超罕见的遗传性疾病，由 ACVR1 基因突变引起，并引发严重的异位骨化。由于疾病的发作与炎症有关，因此人们认为 JAK 抑制剂可以通过阻断多种信号通路来控制活动性 FOP。
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