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彭 税1 李 俊2▲ 董 宇2.成骨不全1例及文献复习[J].中国现代医生,2021,59(23):142-145
成骨不全1例及文献复习
A case of osteogenesis imperfecta and literature review
  
DOI:
中文关键词:  新生儿  成骨不全  骨骼发育障碍  文献复习
英文关键词:Neonates  Osteogenesis imperfecta  Skeletal development disorders  Literature review
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作者单位
彭 税1 李 俊2▲ 董 宇2 1.长治医学院山西长治 0460002.山西省长治市人民医院山西长治 0460003.山西省长治市人民医院新生儿科山西长治 046000 
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中文摘要:
      成骨不全症(Osteogenesis imperfecta,OI),又称脆骨病或脆骨-蓝巩膜-耳聋综合征,是一种罕见的由骨基质合成障碍和内稳态紊乱所致的先天性骨骼发育障碍性疾病,患病率仅为1/20 000~1/15 000。此病有明显的家族史和遗传性,以常染色体显性遗传为主,部分病例为常染色体隐性遗传和X 染色体连锁遗传,也有少数单发病例。该病大多数是由于重要的骨基质蛋白Ⅰ型胶原编码基因及代谢相关基因突变,导致胶原一级结构及数量、翻译后修饰、折叠、细胞内转运等多种异常引起。其特点是骨密度降低、骨骼脆性增加,临床常表现为多发性骨折及一系列的骨外表现。目前已经认识到20 种遗传基因。根据患儿家族史及产前超声检查可初步筛查该病,出生后进行基因检测为确诊依据,产前未明确诊断可导致患儿出生、产时及产后发生骨骼病变的几率增大,严重损害患儿的生存质量甚至死亡。尽早进行临床诊断和给予双膦酸盐等药物治疗,有助于增加患儿的骨密度、降低骨折风险,改善疾病预后。本文就典型家族遗传性OI 1例及相关文献复习报道如下。
英文摘要:
      Osteogenesis imperfecta(OI),also known as brittle bone disease or brittle bone-blue sclera-deafness syndrome,is a rare congenital skeletal development disorder caused by bone matrix synthesis disorders and homeostasis disorders.The prevalence rate is only 1/20 000-1/15 000.The disease has an obvious family history and heredity.The inheritance is mainly autosomal dominant.Some cases are autosomal recessive inheritance and X chromosome-linked inheritance.There are also a few single cases.Most of the disease is caused by mutations in the important bone matrix protein type Ⅰcollagen encoding gene and its metabolism-related genes,which lead to various abnormalities such as the primary structure and quantity of collagen,post-translational modification,folding,intracellular transport and so on.It is characterized by decreased bone density and increased bone fragility.It is often clinically manifested as multiple fractures and a series of extraosseous manifestations.At present,20 genetic genes have been recognized.According to the child’s family history and prenatal ultrasound examination,the disease can be initially screened.Genetic testing after birth is the basis for the diagnosis.Failure to make a clear diagnosis before childbirth can lead to an increased risk of skeletal disease at birth,during,and after childbirth,seriously impair the quality of life of the child and even die.Early clinical diagnosis and administration of bisphosphonates and other drug treatments can help increase the patient′s bone density,reduce the risk of fractures,and improve the prognosis of the disease.This article reports a case of a typical family hereditary OI and a review of related literature as follows.
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