中国的进行性骨化性纤维发育不良。

Fibrodysplasia ossificans progressiva in China.

机构信息

Department of Endocrinology and Metabolism, Tongji Hospital, Tongji University School of Medicine, Shanghai, People's Republic of China.

出版信息

Bone. 2018 Apr;109:101-103. doi: 10.1016/j.bone.2017.11.016. Epub 2017 Nov 22.

DOI:10.1016/j.bone.2017.11.016

PMID:29175272

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare and devastating disorder characterized by cumulative episodes of progressive heterotopic ossification. It is estimated that there exist 600-700 patients in Mainland China. Nevertheless, due to the rarity, many FOP patients were initially misdiagnosed. Until now fewer than 150 patients have been identified in Mainland China. This review summarizes the epidemiology and clinical features of FOP patients, the progress of clinical and basic research in China, and the future of FOP care in China.

摘要

进行性骨化性纤维发育不良（FOP）是一种罕见且破坏性极大的疾病，其特征是进行性异位骨化的累积发作。据估计，中国大陆约有 600-700 名患者。然而，由于这种疾病罕见，许多 FOP 患者最初被误诊。截至目前，中国大陆确诊的患者人数不到 150 人。本文综述了中国大陆 FOP 患者的流行病学和临床特征、中国在临床和基础研究方面的进展，以及中国 FOP 治疗的未来。