LRP5基因突变导致骨质疏松症-假性胶质瘤综合征一例报告  

A case of osteoporosis-pseudoglioma syndrome misdiagnosed as osteogenesis imperfecta

作　　者：余安琪 王晨秀[2] 邓颖[2] 黄水金 何文静 霍亚南[2] 林安华[2] YU An-qi;WANG Chen-xiu;DENG Ying;HUANG Shui-jin;HE Wen-jing;HUO Yanan;LIN An-hua(Jiangxi Medical College,Nanchang University,Nanchang 330000,China;Department of Endocrinology and Osteoporosis,Jiangxi Provincial People's Hospital,The First Affiliated Hospital of Nanchang Medical College,Nanchang 330000,China)

机构地区：[1]南昌大学江西医学院,南昌330000 [2]江西省人民医院(南昌医学院第一附属医院)内分泌骨质疏松科,南昌330000

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2024年第2期150-154,共5页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：江西省卫生健康委科技计划(20203018)。

摘　　要：报告一例常染色体隐性遗传发病的骨质疏松症-假性胶质瘤综合征。先证者女性,23岁,父母非近亲结婚,出生后发现双目失明,婴儿期因发现右眼视网膜母细胞瘤行右眼球摘除术,9岁开始反复发生轻微外力骨折,诊断为成骨不全。查体发现脊柱侧凸畸形、胸廓畸形、双上肢肘外翻、四肢关节韧带松弛。双能X线吸收检测仪(dual energy X-ray absorptiometry,DXA)骨密度明显低于同龄人,腰椎1-4骨密度Z值-5,左髋骨密度Z值-1.8。X线摄片示全身骨小梁稀疏。Sanger测序显示低密度脂蛋白受体相关蛋白-5(lowdensity lipoprotein receptor-related protein 5,LRP5)基因的6号外显子和23号外显子发生复合杂合突变,导致p.Pro382Leu+p.Cys1611LeufsX33。本文通过文献复习对该病的临床表现和诊疗特点进行讨论及总结,以期帮助临床医生提高对这一疾病的认识。We report a case of autosomal recessive osteoporosis pseudoglioma syndrome.The proband was a 23-year-old female who was blind in both eyes after birth and her right eyeball was removed due to the retinoblastoma of the right eye in fancy.Fractures have repeatedly occured under minor external force since the age of 9 years and was diagnosed as osteogenesis imperfecta.Physical examination revealed scoliosis deformity,thoracic deformity,elbow valgus in both upper limbs,and ligament laxity in the joints of the extremities.Dual energy X-ray absorptiometry(DXA)showed that the bone mineral density was significantly lower than that of peers with the value of 0.484 g/cm^(2)in the lumbar region(L1-L4)(Z score-5).X-ray radiographs showed sparse trabeculae throughout the body.Nucleotide sequencing revealed a compound heterozygous mutations in exon 6 and exon 23 of gene encoding low-density lipoprotein receptor-related protein 5(LRP5),resulting in p.Pro382Leu and p.Cys1611LeufsX33.This article and summarizes the clinical manifestations and diagnostic features of this disease through literature review,to enhance clinicians understanding of this disease.

关 键 词：低密度脂蛋白受体相关蛋白-5 骨质疏松症-假性神经胶质瘤综合征 复合杂合突变 

分 类 号：R681[医药卫生—骨科学]