Savarirayan Ravi, Ireland Penny, Irving Melita, Thompson Dominic, Alves Inês, Baratela Wagner A R, Betts James, Bober Michael B, Boero Silvio, Briddell Jenna, Campbell Jeffrey, Campeau Philippe M, Carl-Innig Patricia, Cheung Moira S, Cobourne Martyn, Cormier-Daire Valérie, Deladure-Molla Muriel, Del Pino Mariana, Elphick Heather, Fano Virginia, Fauroux Brigitte, Gibbins Jonathan, Groves Mari L, Hagenäs Lars, Hannon Therese, Hoover-Fong Julie, Kaisermann Morrys, Leiva-Gea Antonio, Llerena Juan, Mackenzie William, Martin Kenneth, Mazzoleni Fabio, McDonnell Sharon, Meazzini Maria Costanza, Milerad Josef, Mohnike Klaus, Mortier Geert R, Offiah Amaka, Ozono Keiichi, Phillips John A, Powell Steven, Prasad Yosha, Raggio Cathleen, Rosselli Pablo, Rossiter Judith, Selicorni Angelo, Sessa Marco, Theroux Mary, Thomas Matthew, Trespedi Laura, Tunkel David, Wallis Colin, Wright Michael, Yasui Natsuo, Fredwall Svein Otto
Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia.
School of Health and Rehabilitation Sciences, University of Queensland, Brisbane, Queensland, Australia.
Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26.
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.
软骨发育不全是最常见的骨骼发育不良疾病，其特征是在整个生命周期中面临各种医学、功能和社会心理挑战。这种疾病是由FGFR3基因（编码成纤维细胞生长因子受体3的基因）中常见的、反复出现的功能获得性突变引起的。这种突变导致人类骨骼的软骨内成骨受损。软骨发育不全的临床和影像学特征使大多数患者能够得到准确诊断。然而，在管理患有这种疾病的儿童和成人的临床医生所采用的临床护理途径和方案中存在显著差异。来自16个国家和5个大洲的55名国际专家组成的小组，采用改良的德尔菲法，制定了共识声明和建议，旨在把握软骨发育不全在每个主要生命阶段和亚专业领域的关键挑战及最佳管理方法。这份首份国际共识声明的主要目的是促进全球范围内对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。
