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巴西的进行性骨化性纤维发育不良:创建援助和教育网络的挑战和策略。

Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks.

机构信息

Center of Rare Diseases at Faculdade São Leopoldo Mandic (DoRa), R José Rocha Junqueira, 13, Campinas, SP, 13045-755, Brazil.

Faculdade São Leopoldo Mandic Medical School, Undergraduate Medical Program, Campinas, SP, Brazil.

出版信息

Orphanet J Rare Dis. 2022 Sep 7;17(1):348. doi: 10.1186/s13023-022-02503-6.

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events. It is estimated that there are 120-150 patients in Brazil; however, currently, fewer than 100 patients have been identified, and the role of a FOP advocacy group (FOP Brazil) has been instrumental for the identification and follow-up of these individuals and families. The aim of this article is to summarize the current status of FOP in Brazil and describe strategies proposed to approach this challenge in a continental size country.

摘要

进行性骨化性纤维发育不良(FOP)是一种极为罕见的疾病,也是与进行性异位骨化事件相关的最具影响力的疾病之一。据估计,巴西有 120-150 名患者;然而,目前仅发现了不到 100 名患者,FOP 倡导组织(FOP Brazil)在这些个体和家庭的识别和随访中发挥了重要作用。本文的目的是总结巴西 FOP 的现状,并描述在一个大陆规模的国家中提出的应对这一挑战的策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdb0/9450346/54ee819f4f22/13023_2022_2503_Fig1_HTML.jpg

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