成人成骨不全症33例临床特点  

Clinical characteristics of 33 adult patients with osteogenesis imperfecta

作　　者：徐晓杰 陈佳 李伟 左庆瑶 刘梅娟 邓微 XU Xiao-jie;CHEN Jia;LI Wei;ZUO Qing-yao;LIU Mei-juan;DENG Wei(Department of Endocrinology,Beijing Jishuitan Hospital,Capital Medical University,Beijing 100035,China)

机构地区：[1]首都医科大学附属北京积水潭医院内分泌科,北京100035

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2023年第3期197-206,共10页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：北京积水潭医院院内青年基金(QN-202104);北京积水潭医院院级科研基金(HL202206)。

摘　　要：目的总结成骨不全症(osteogenesis imperfecta,OI)成人患者的临床症状、骨转换、骨密度特征。方法纳入2010年至2023年在北京积水潭医院内分泌科诊断的33例成人OI患者,回顾性分析不同临床分型OI患者的特点,包括骨转换生化指标血清Ⅰ型胶原交联羧基末端肽(C-terminal telopeptide of typeⅠcollagen,CTX)、血清Ⅰ型原胶原氨基端前肽(procollagen typeⅠN-prepeptide,P1NP)、N-端骨钙素(osteocalcin,OC)、25羟维生素D(25-hydroxyvitamin D,25OHD),以及临床表型评分、成年后骨折、体积和面积骨密度(bone mineral density,BMD)等。结果33例成人OI患者中,约3/4为Ⅰ型和Ⅳ型,94%有脆性骨折史,普遍存在骨痛、维生素D缺乏(64%)或维生素D不足(91%);83%绝经前女性和50岁以下男性OI患者的BMD Z值≤-2 SD,89%绝经后女性和50岁以上男性患者的BMD T值≤-2.5 SD。成人Ⅲ型OI患者的临床表型评分最高(Ⅰ型5.4±0.8、Ⅲ型12.3±1.6、Ⅳ型7.3±1.8,P<0.001)、身高Z值最低(Ⅰ型0.02±0.8、Ⅲ型-4.0±1.4、Ⅳ型-1.9±1.1,P<0.001)、体质量指数最高[Ⅰ型(22.4±3.1)kg/m^(2)、Ⅲ型(25.8±2.1)kg/m^(2)、Ⅳ型(22.6±3.8)kg/m^(2),P=0.049];更多出现骨骼畸形、活动受限和牙齿异常;股骨颈和全髋面积BMD Z值显著低于Ⅰ、Ⅳ型,但骨转换生化指标P1NP、OC、CTX及空腹血糖、总胆固醇、三酰甘油、尿酸比较,差异无统计学意义(P>0.05)。结论成人OI患者普遍存在骨痛、超重、维生素D营养状况差、腰椎和髋部骨量低下,提示极高骨折风险;胶原代谢异常、活动减少、增龄和绝经相关骨量丢失在成人OI共同发挥作用。OI是导致成人继发性骨质疏松症的重要遗传性病因。Objective To investigate the clinical phenotypes,bone turnover,and bone mineral density in adult patients with osteogenesis imperfecta(OI).Methods We performed a retrospective analysis of 33 adult OI patients with different clinical classifications,from^(2)010 to 2023 in Endocrinology Department of Beijing Jishuitan Hospital.Multiple clinical phenotypes were collected,such as childhood and adult fractures,bone pain,final height,extra-skeletal features,bone morphologies,area and volumetric bone mineral density(BMD),serum levels of C-terminal telopeptide of typeⅠcollagen(CTX),procollagen typeⅠN-prepeptide(P1NP),osteocalcin(OC),25-hydroxyvitamin D(25OHD).Results Three-fourths of the 33 OI patients were classified with OI type I and IV,94%with fracture family history.Bone pain,vitamin D deficiency(64%)or insufficiency(91%)were vitally common.BMD at lumbar spine and proximal hip were extremely low in adult OI patients;83%of the premenopausal women and men before age 50 had at least one aBMD Z-score less than or equal to-2.0 SD,while 89%of the postmenopausal women and men over 50 years of age had at least one aBMD T-score less than or equal to-2.5 SD.Compared withⅠandⅣ,(Ⅰ:5.4±0.8,Ⅲ:12.3±1.6,Ⅳ:7.3±1.8,P<0.001),the highest body mass index[Ⅰ:(22.4±3.1)kg/m^(2),Ⅲ:(25.8±2.1)kg/m^(2),Ⅳ:(22.6±3.8)kg/m^(2),P=0.049],(Ⅰ:0.02±0.8,Ⅲ:-4.0±1.4,Ⅳ:-1.9±1.1,P<0.001),and the lowest aBMD Z scores at proximal hip(both P<0.01).Moreover,OI-Ⅲpatients were complicated with more skeletal deformities,more mobility,and dental problems.No differences of serum P1NP,OC,CTX,fasting blood glucose,total cholesterol and triglyceride levels,uric acid were found among OI-Ⅰ,QI-Ⅲand QI-Ⅳ.Conclusions OI adults present general bone pain,overweight,extremely low vitamin D,and low bone mass,indicating high fracture risks.Abnormal collagen metabolism,disuse,aging,and menopause may aggravate bone loss in adult patients,and OI is the most common heredity cause of secondary osteoporosis.

关 键 词：成骨不全症 成人 骨密度 骨质疏松 骨折 

分 类 号：R681[医药卫生—骨科学]