儿童成骨不全的诊治进展

中国儿童保健杂志 ›› 2014, Vol. 22 ›› Issue (2): 156-157.

儿童成骨不全的诊治进展

余长缨¹, 王午喜¹, 韩德宣²

1 重庆市南岸区妇幼保健医院, 重庆 400060;
2 重庆市第五人民医院, 重庆 400060

收稿日期:2013-08-21 发布日期:2014-02-10 出版日期:2014-02-10
通讯作者: 王午喜, E-mail:26156264@qq.com
作者简介:余长缨(1983-), 女, 重庆人, 住院医师, 本科学历, 主要从事儿童疾病诊治及儿童保健工作研究。

Received:2013-08-21 Online:2014-02-10 Published:2014-02-10

摘要/Abstract

摘要： 成骨不全又称蓝巩膜-脆骨综合症, 是一种常染色体遗传性疾病。绝大多数(90%以上)为显性遗传, 常呈家族聚集, 偶有散发, 儿童中发病率约为1∶10 000, 无明显性别差异。该病的主要病因是由于编码I型胶原α链的COL1A1、COL1A 2基因突变, 导致I型胶原合成障碍, 结缔组织中胶原量尤其是Ⅰ型胶原含量降低, 导致骨骼、皮肤、牙本质等部位出现病变。该病的临床特征主要有身材偏矮小、蓝色巩膜、骨密度减低或骨脆性增加并易骨折、进行性耳聋、牙本质发育不全以及鸡胸等等, 重者可导致患儿围产期或出生后死亡, 或反复骨折畸形失去劳动力。目前, 医学界对该病尚无有效根治疗法, 因此对有家族病史的高危孕妇做好产前咨询、诊断和基因筛查, 进行优生干预很有必要。

中图分类号:

R179

余长缨, 王午喜, 韩德宣. 儿童成骨不全的诊治进展[J]. 中国儿童保健杂志, 2014, 22(2): 156-157.

参考文献

[1] Pollitt R, McMahon R, Nunn J, et al.Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV[J].Hum Mutat, 2006, 27(7):716.
[2] Hartikka H, Kuurila K, Krkk J, et al.Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients[J].Hum Mutat, 2004, 24(2):147.
[3] Malfait F, Symoens S, De Backer J, et al.Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adu l-thood[J].Hum Mutat, 2007, 28(4):392.
[4] Forlino A, Cabral WA, Barnes AM, et al.New perspectives on osteogenesis imperfecta[J].Nat Rev Endocrinol, 2011, 7(9):546-552.
[5] 徐超, 任秀智.成骨不全症患者LEPRE1基因突变位点的筛查[J].中国生物制品学杂志, 2013, 26(1):96-99.
[6] Glorieux FH, Rauch F, Plotkin H, et al.Type V osteogenesis imperfecta:a new form of brittle bone disease[J].J Bone Miner Res, 2000, 15(9):1650-1658.
[7] Becker J, Semler O, Gilissen C, et al.Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta[J].Am J Hum Genet, 2011, 88(3):362-371.
[8] Cabral WA, Chang W, Barnes AM, et al.Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta[J].Nat Genet, 2007, 39(3):359-365.
[9] Van Dijk FS, Nesbitt IM, Zwikstra EH, et al.PPIB mutations cause severe osteogenesis imperfecta[J].Am J Hum Genet, 2009, 85(4):521-527.
[10] Christiansen HE, Schwarze U, Pyott SM, et al.Homozygosity for amissense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta[J].Am J Hum Genet, 2010, 86(3):389-398.
[11] Alanay Y, Avaygan H, Camacho N, et al.Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta[J].Am J Hum Genet, 2010, 86(4):551-559.
[12] Lapunzina P, Aglan M, Temtamy S, et al.Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta[J].Am J Hum Genet, 2010, 87(1):110-114.
[13] 徐忠建, 丁海霞.成骨不全的影像学表现与诊断[J].武汉大学学报:医学版, 2010, 31(5):691-694.
[14] Galicka AG.Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans[J].Acta Biochim Pol, 2002, 49(2):433-441.
[15] Chamberlain JR, Schwarze U, Wang PR, et al.Gene targeting in stem cells from individuals with osteogenesis imperfecta[J].Science, 2004, 303(5661):1198-1201.
[16] 贾国华, 李丹凤.成骨不全一家系16例分析[J].中国优生与遗传杂志, 2011, 19(11):120-121.
[17] 李胜利.胎儿畸形产前超声诊断学[M].北京:人民军医出版社, 2011, 346.
[18] 李焕铮, 唐少华, 毛义建, 等.COL1A1/COL1A2基因突变分析与成骨不全的产前基因诊断[J].中国优生与遗传杂志, 2012, 20(10):22-24.