《关于软骨发育不全患者的诊断、多学科管理和终身护理的国际共识声明》要点解读

软骨发育不全是导致儿童生长发育障碍的一类罕见疾病，主要表现为骨骼发育不良及不成比例的身材矮小，可导致呼吸异常、听力受损、脊柱受累、四肢关节畸形等多种问题，从而使患者一生中面临各种治疗、康复等问题，极大地影响了患者的生活质量。然而目前软骨发育不全的临床治疗和护理路径并未完全统一，为了促进该病临床治疗方案的标准化，国际专家小组提出了《关于软骨发育不全患者的诊断、多学科管理和终身护理的国际共识声明》。本文就该共识针对患者整个生命周期的管理及可能涉及的临床问题的多学科管理进行了要点解读，以促进该病的规范化治疗、临床结局优化，提高患者生活质量，降低病死率。

Interpretation on Key Points of International Consensus Statement on the Diagnosis,Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia

Achondroplasia is a rare disease leading to growth and developmental disorders in children, mainly manifested as skeletal dysplasia and disproportionate short stature, which can lead to respiratory abnormalities, hearing loss, spinal involvement, limb joint deformity and other problems, thus making patients encounter a variety of treatment and rehabilitation issues throughout their life, with greatly impaired quality of life. However, the clinical treatment and care pathways of achondroplasia are still not completely unified. To facilitate the standardization of clinical treatment of achondroplasia, the International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia was developed by a group of international experts. We interpreted the key points of the consensus, mainly involving lifelong care and multidisciplinary clinical management, aiming to promote the standardization of care for individuals with achondroplasia in order to improve their clinical outcomes and quality of life as well as reduce their mortality.