International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
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DOI：
10.1038/s41574-021-00595-x
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发表时间：
2021-11-26
影响因子：
40.5
通讯作者：
Fredwall, Svein Otto
中科院分区：
文献类型：
--
作者：
Savarirayan, Ravi;Ireland, Penny;Fredwall, Svein Otto
软骨发育不全是最常见的骨骼发育不良，其特点是在整个生命周期中存在各种医学、功能和心理社会挑战。这种情况是由FGFR3（编码成纤维细胞生长因子受体3的基因）中常见的复发性功能获得性突变引起的。这种突变导致人类骨骼的软骨内骨化受损。软骨发育不全的临床和影像学特征使大多数患者的准确诊断成为可能。然而，在临床护理途径和临床医生管理儿童和成人这种情况下实行的协议存在显着的变化。来自16个国家和5大洲的55名国际专家制定了共识声明和建议，旨在使用改良的德尔菲过程，在每个主要生命阶段和子专业领域捕获软骨发育不全的关键挑战和最佳管理。第一份国际共识声明的主要目的是促进全球软骨发育不全儿童和成人护理的改善和标准化，以优化他们的临床结局和生活质量。软骨发育不全是最常见的骨骼发育不良，其特征是受影响个体的各种终身临床，功能和心理社会挑战。这是第一份关于软骨发育不全儿童和成人护理的国际共识声明，旨在促进软骨发育不全临床护理的全球标准化和改进。
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.Achondroplasia is the most common skeletal dysplasia and is characterized by various lifelong clinical, functional and psychosocial challenges for affected individuals. This first International Consensus Statement on the care of children and adults with achondroplasia aims to facilitate the global standardization and improvement of achondroplasia clinical care.