中华骨质疏松和骨矿盐疾病杂志2025，Vol.18Issue(4)：439-446,8.DOI:10.3969/j.issn.1674-2591.2025.04.006
反复骨折-眼眶红肿-怕冷脱发
Repeated fractures-periorbital edema-cold intolerance and alopecia
摘要
Abstract
Osteogenesis imperfecta is a monogenetic bone disease characterised by increased bone fragility and recurrent fractures due to impaired collagen metabolism.We report an extremely rare case of a 16-year-old patient presen-ting recurrent fractures of the right femur and carpal bones under minimal force since childhood.X-rays showed scoliosis,slender long bones,thin bone cortex and sparse trabeculae.Additionally,the patient presented with a concomitant history of recurrent orbital and upper arm cellulitis,as well as severe hypothyroidism.The patient was treated with calcitriol,cal-cium,and intravenous zoledronic acid,in conjunction with levothyroxine sodium replacement therapy,and short-term meropenem and linezolid.This resulted in a notable enhancement in the patient's condition and a considerable elevation in bone mineral density.Whole-exome sequencing revealed the presence of a homozygous missense mutation in exon 3 of the SP7 gene in the patient,confirming that this is the first case of osteogenesis imperfecta typeⅫdiagnosed in mainland Chi-na.Recurrent infections and chronic lymphocytic thyroiditis in this patient,presumably related to the disruption of the bone-immunomodulatory network led by the mutated SP7 gene.Type Ⅻ osteogenesis imperfecta due to mutations in the SP7 gene is extremely rare,and only eight cases have been reported worldwide to date.This study aims to analyze the gen-otypic and phenotypic characteristics of this specific type of osteogenesis imperfecta in order to enhance the comprehension of this exceptionally rare genetic bone disease.关键词
成骨不全症/SP7基因/蜂窝织炎/甲状腺功能减低Key words
osteogenesis imperfecta/SP7 gene/cellulitis/hypothyroidism分类
医药卫生引用本文复制引用
付子垚,胡静,崔丽嘉,苏婉,孙凤艳,张化冰,夏维波,李梅..反复骨折-眼眶红肿-怕冷脱发[J].中华骨质疏松和骨矿盐疾病杂志,2025,18(4):439-446,8.基金项目
国家自然科学基金(82100946,82270938) （82100946,82270938）
北京协和医院中央高水平医院临床科研专项(2022-PUMCH-D-006) （2022-PUMCH-D-006）
中国医学科学院中央级公益性科研院所基本科研业务费(2023-PT320-10) （2023-PT320-10）
