成骨不全高原藏族一家系三代的临床调查及X线分析
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摘要
目的:探讨高原藏族成骨不全的遗传方式,临床、X线特点及病因学分析。方法:收集海拔在4 400m高原地区,一藏族患成骨不全家系的临床资料,绘制该家系遗传图谱,分析临床及X线表现。结果:根据临床资料和放射学表现,该家系三代共24人,患成骨不全症6例,女4例、男2例,均表现为蓝色巩膜、体格矮小、骨密度普遍减低、多次骨折、颅骨X线表现为龟背状改变。结论:X线及临床表现对成骨不全的诊断有重要价值,世居高海拔缺氧对成骨不全症的发生的影响有待进一步研究。
Objective: To survey the genetic way of osteogenesis imperfecta in three generations of a Tibetan family and analyze their X- ray features. Method: The clinical data of a Tibetan family involved three generations who living at 4 400 meters of plateau and suffering from osteogenesis imperfecta were studied. The family genetic mapping was done and the feature of clinical and X- ray were analyzed. Results: According to the clinical information and radiation features,6 cases( female 4 and male 2) were diagnosed as osteogenesis imperfecta among 24 family members( three generations). They were manifested as blue sclera,physical short,lower bone density,many times of fracture,and X- ray turtle- like change in skull. Conclusion: X- ray and clinical manifestation have important value for diagnosis of osteogenesis imperfecta. As for how the high altitude hypoxia effect on osteogenesis imperfecta is need to further research.
Objective: To survey the genetic way of osteogenesis imperfecta in three generations of a Tibetan family and analyze their X- ray features. Method: The clinical data of a Tibetan family involved three generations who living at 4 400 meters of plateau and suffering from osteogenesis imperfecta were studied. The family genetic mapping was done and the feature of clinical and X- ray were analyzed. Results: According to the clinical information and radiation features,6 cases( female 4 and male 2) were diagnosed as osteogenesis imperfecta among 24 family members( three generations). They were manifested as blue sclera,physical short,lower bone density,many times of fracture,and X- ray turtle- like change in skull. Conclusion: X- ray and clinical manifestation have important value for diagnosis of osteogenesis imperfecta. As for how the high altitude hypoxia effect on osteogenesis imperfecta is need to further research.
引文
1 Forlino A,Cabral WA,Barnes AM,et al.New perspectives on osteogenesis imperfecta.Nat Rev Endocrinol,2011,7(9):540~557.
2 Glorieux FH.Osteogenesis imperfecta.Best Pract Res Clin Rheumatol,2008,22(1):85~100.
3 Pollitt R,McM ahon R,Nunn J,et al.Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfeeta type I-IV.JJ HumM utat,2006,27(7):716.
4 Martin E,Shapiro JR.Osteogenesis imperfeeta:epidemiology andpathophysiology.Curr Osteoporos Rep,2007,5(3):91~97.
5 Byers PH,Cole WG.Osteogenesis imperfecta.In:Royce PM,Steinmann B,eds.Connective Tissue and Its Heritable Disorders:Molecular,Genetic and Medical Aspects.New York:Wiley-Liss,2002,85~430.
6 Gajko-Galicka A.Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.Acta Biochim Pol,2002,49(2):433~441.
7 Wang SK,Chan HC,Makovey I,et al.Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DG1 without skeletal abnormalities.PLoS One,2012,7(12):e51 533.
8 Park JH,Park BH,Kim HK,et al.Hypoxia decreases Runx2/Cbfa1 expression in human osteoblast-like cells.Mol Cell Endocrinol,2002,192(1~2):197~203.
9 Wwn ZD,Hao JK.Chengdu:Sichuan Keji Jishu Chebanshe,1989,283~287.
10 Bullough PC,Davidson D,Lorenzo JC.The morbid anatomy of the skeleton in osteogenesis imperfecta.Clin Orthop Relat Res,1981,159(9):42~57.
11 Deak SB,Nicholls A,Pope FM,et al.The molecularde-defect in a nonlethal variant of ostegenesis imperfecta.synthesis of pro-alpha2(1)chains which are not incorporated into trimers of typel procollagen.J Biol Chem,1983,258(10):15 192~15 197.
12 Baron R,Certner JM,Lang R,et al.Increased bone turn over with decreased bone formation by osteoblasts in childre with osteogenes imperfecta tarda.Pediatr Res,1983,17(3):204~207.
13李景学,孙鼎元.骨与关节X线诊断学.北京:人民卫生出版社,1982,119~121.
14陈卫国,黄婵桃,廖昕,等.成骨不全症的X线诊断(附10例报告及文献复习).实用放射学杂志,2006,22(11):1 375~1 377.
2 Glorieux FH.Osteogenesis imperfecta.Best Pract Res Clin Rheumatol,2008,22(1):85~100.
3 Pollitt R,McM ahon R,Nunn J,et al.Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfeeta type I-IV.JJ HumM utat,2006,27(7):716.
4 Martin E,Shapiro JR.Osteogenesis imperfeeta:epidemiology andpathophysiology.Curr Osteoporos Rep,2007,5(3):91~97.
5 Byers PH,Cole WG.Osteogenesis imperfecta.In:Royce PM,Steinmann B,eds.Connective Tissue and Its Heritable Disorders:Molecular,Genetic and Medical Aspects.New York:Wiley-Liss,2002,85~430.
6 Gajko-Galicka A.Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.Acta Biochim Pol,2002,49(2):433~441.
7 Wang SK,Chan HC,Makovey I,et al.Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DG1 without skeletal abnormalities.PLoS One,2012,7(12):e51 533.
8 Park JH,Park BH,Kim HK,et al.Hypoxia decreases Runx2/Cbfa1 expression in human osteoblast-like cells.Mol Cell Endocrinol,2002,192(1~2):197~203.
9 Wwn ZD,Hao JK.Chengdu:Sichuan Keji Jishu Chebanshe,1989,283~287.
10 Bullough PC,Davidson D,Lorenzo JC.The morbid anatomy of the skeleton in osteogenesis imperfecta.Clin Orthop Relat Res,1981,159(9):42~57.
11 Deak SB,Nicholls A,Pope FM,et al.The molecularde-defect in a nonlethal variant of ostegenesis imperfecta.synthesis of pro-alpha2(1)chains which are not incorporated into trimers of typel procollagen.J Biol Chem,1983,258(10):15 192~15 197.
12 Baron R,Certner JM,Lang R,et al.Increased bone turn over with decreased bone formation by osteoblasts in childre with osteogenes imperfecta tarda.Pediatr Res,1983,17(3):204~207.
13李景学,孙鼎元.骨与关节X线诊断学.北京:人民卫生出版社,1982,119~121.
14陈卫国,黄婵桃,廖昕,等.成骨不全症的X线诊断(附10例报告及文献复习).实用放射学杂志,2006,22(11):1 375~1 377.