Ehlers-Danlos综合征中身材矮小的诊疗进展  

Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes

作　　者：徐可欣 李国壮 吴志宏 仉建国[1,2,3,4] DISCO(系统解析脊柱侧凸及相关合并症)国际多中心协作组 吴南 XU Kexin;LI Guozhuang;WU Zhihong;ZHANG Jianguo;DISCO(Deciphering Disorders Involving Scoliosis&Comorbidities)Study Group;WU Nan(Department of Orthopedic Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Beijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Key Laboratory of Big Data for Spinal Deformities,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Medical Science Research Center(MRC),Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;不详)

机构地区：[1]中国医学科学院北京协和医院骨科,北京100730 [2]中国医学科学院北京协和医院骨骼医疗大数据创新应用北京市重点实验室,北京100730 [3]中国医学科学院北京协和医院中国医学科学院脊柱畸形大数据研究与应用重点实验室,北京100730 [4]中国医学科学院北京协和医院疑难重症及罕见病全国重点实验室,北京100730 [5]中国医学科学院北京协和医院医学科学研究中心,北京100730 [6]不详

出　　处：《协和医学杂志》2025年第1期163-170,共8页Medical Journal of Peking Union Medical College Hospital

基　　金：国家重点研发计划(2022YFC2703100);中央高水平医院临床科研专项(2022-PUMCH-C-033)。

摘　　要：Ehlers-Danlos综合征(Ehlers-Danlos syndromes,EDS)是一组罕见的遗传性结缔组织疾病,以关节过度活动、皮肤过度伸展和组织脆弱为主要表现。身材矮小是指比同年龄、性别、种族人群的平均身高低至少2个标准差,其发病机理复杂,早发现、早治疗至关重要。身材矮小并非所有EDS亚型的特征性表现,其主要见于脊柱发育不良型EDS、皮肤脆裂型EDS、肌肉挛缩型EDS等亚型中,并可能受到脊柱畸形、营养不良等因素影响。对于EDS患者的身材矮小,应注重深度表型评估和多学科综合诊疗。EDS患者的身材矮小问题在国内尚未引起足够重视,针对EDS相关身材矮小患者的治疗尚缺乏高级别循证医学证据。本文旨在综述EDS患者身材矮小的诊疗进展,以期为该类患者提供更精准的诊疗服务。Ehlers-Danlos syndromes(EDS)are a group of rare hereditary connective tissue disorders characterized by joint hypermobility,skin hyperextensibility,and tissue fragility.Short stature is defined as a height that is two standard deviations or more below the average height for individuals of the same age,sex,and race.The etiopathogenesis of short stature is complicated.Early detection and appropriate intervention are essential in disease treatment.However,short stature is not common among all EDS subtypes.It is frequently observed in patients with rare subtypes,such as spondylodysplastic EDS,dermatosparaxis EDS,and musculo-contractural EDS.Besides,height may be affected by other factors including spinal curvature and malnutrition.Deep phenotyping and multidisciplinary team approaches are recommended for the diagnosis and management.Short stature in patients with EDS has not been sufficiently acknowledged in China.There is currently a lack of high-level evidence for the treatment of EDS-related short stature.Therefore,this review aims to present recent progress of diagnosis and management of short stature in patients with EDS.Further studies focusing on short stature in rare subtypes are necessary to advance precision medicine and enhance patient care.

关 键 词：EHLERS-DANLOS综合征 身材矮小 多学科协作诊疗 深度表型评估 罕见病 

分 类 号：R596.2[医药卫生—内科学] R68[医药卫生—临床医学]