成骨不全症临床诊疗指南
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摘要
<正>成骨不全症(osteogenesis imperfecta,OI)又名脆骨病,是最常见的单基因遗传性骨病,以骨量低下、骨骼脆性增加和反复骨折为主要特征,由重要的骨基质蛋白Ⅰ型胶原(typeⅠcollagen)编码基因及其代谢相关基因突变所致~([1-2])。新生儿患病率约为1/15 000～20 000~([3])。青少年型和家族性骨质疏松症患者中,有相当一部分是未确
引文
[1] Forlino A,Cabral WA,Barnes AM,et al. New perspectives on osteogenesis imperfecta[J]. Nat Rev Endocrinol,2011,7:540-557
[2] Cundy T. Recent advances in osteogenesis imperfecta[J]. Calcif Tissue Int,2012,90:439-449
[3] Forlino A,Marini JC. Osteogenesis imperfecta[J].Lancet,2016,387:1657-1671
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[5] Van Dijk FS,Sillence DO. Osteogenesis imperfecta:clinical diagnosis,nomenclature and severity assessment[J]. Am J Med Genet A, 2014, 164A:1470-1481.
[6] Tournis S,Dede AD. Osteogenesis imperfecta-a clinical update[J]. Metabolism,2018,80:27-37.
[7] Marini JC,Forlino A,Bachinger HP,et al. Osteogenesis imperfecta[J]. Nat Rev Dis Primers, 2017,3:17052.
[8] Sato A,Ouellet J,Muneta T,et al. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations—genotype-phenotype correlations and effect of bisphosphonate treatment[J]. Bone, 2016, 86:53-57.
[9] Grover M,Campeau PM,Lietman CD,et al. Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene[J]. J Bone Miner Res,2013,28:2333-2337.
[10] Sillence DO,Rimoin DL. Classification of osteogenesis imperfect[J]. Lancet,1978,1:1041-1042.
[11] Zhang ZL,Zhang H,Ke YH,et al. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta[J]. J Bone Miner Metab, 2012, 30:69-77.
[12] Liu Y,Song LJ,Lv F,et al. Gene mutation spectrum and genotype-phenotype correlation in Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing[J]. Osteoporos Int, 2017,28:2985-2995.
[13] Glorieux FH,Rauch F,Plotkin H,et al. TypeⅤosteogenesis imperfecta:a new form of brittle bone disease[J]. J Bone Miner Res,2000,15:1650-1658.
[14] Zhang Z,Li M,He JW,et al. Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V[J]. PLoS One,2013,8:e72337.
[15] Liu Y,Wang J,Ma D,et al. Osteogenesis imperfecta type V:genetic and clinical findings in eleven Chinese patients[J]. Clin Chim Acta,2016,462:201-209.
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[17] 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,2011,88:362-371.
[18] Wang JY,Liu Y,Song LJ,et al. Novel mutations in SERPINF1 result in rare osteogenesis imperfecta type VI[J]. Calcif Tissue Int,2017,100:55-66.
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[2] Cundy T. Recent advances in osteogenesis imperfecta[J]. Calcif Tissue Int,2012,90:439-449
[3] Forlino A,Marini JC. Osteogenesis imperfecta[J].Lancet,2016,387:1657-1671
[4] Saraff V,Hogler W. Endocrinology and adolescence:Osteoporosis in children:diagnosis and management[J]. Eur J Endocrinol,2015,173:185-197.
[5] Van Dijk FS,Sillence DO. Osteogenesis imperfecta:clinical diagnosis,nomenclature and severity assessment[J]. Am J Med Genet A, 2014, 164A:1470-1481.
[6] Tournis S,Dede AD. Osteogenesis imperfecta-a clinical update[J]. Metabolism,2018,80:27-37.
[7] Marini JC,Forlino A,Bachinger HP,et al. Osteogenesis imperfecta[J]. Nat Rev Dis Primers, 2017,3:17052.
[8] Sato A,Ouellet J,Muneta T,et al. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations—genotype-phenotype correlations and effect of bisphosphonate treatment[J]. Bone, 2016, 86:53-57.
[9] Grover M,Campeau PM,Lietman CD,et al. Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene[J]. J Bone Miner Res,2013,28:2333-2337.
[10] Sillence DO,Rimoin DL. Classification of osteogenesis imperfect[J]. Lancet,1978,1:1041-1042.
[11] Zhang ZL,Zhang H,Ke YH,et al. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta[J]. J Bone Miner Metab, 2012, 30:69-77.
[12] Liu Y,Song LJ,Lv F,et al. Gene mutation spectrum and genotype-phenotype correlation in Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing[J]. Osteoporos Int, 2017,28:2985-2995.
[13] Glorieux FH,Rauch F,Plotkin H,et al. TypeⅤosteogenesis imperfecta:a new form of brittle bone disease[J]. J Bone Miner Res,2000,15:1650-1658.
[14] Zhang Z,Li M,He JW,et al. Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V[J]. PLoS One,2013,8:e72337.
[15] Liu Y,Wang J,Ma D,et al. Osteogenesis imperfecta type V:genetic and clinical findings in eleven Chinese patients[J]. Clin Chim Acta,2016,462:201-209.
[16] Glorieux FH,Ward LM,Rauch F,et al. Osteogenesis imperfecta type VI:a form of brittle bone disease with a mineralization defect[J]. J Bone Miner Res,2002,17:30-38.
[17] 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,2011,88:362-371.
[18] Wang JY,Liu Y,Song LJ,et al. Novel mutations in SERPINF1 result in rare osteogenesis imperfecta type VI[J]. Calcif Tissue Int,2017,100:55-66.
[19] Rauch F,Husseini A,Roughley P,Glorieux FH,et al.Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI[J]. J Clin Endocrinol Metab,2012,97:E1550-E1556.
[20] Chang W,Barnes AM,Cabral WA,et al. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex[J]. Hum Mol Genet, 2010, 19:223-234.
[21] Ward LM,Rauch F,Travers R,et al. Osteogenesis imperfecta type VII:an autosomal recessive form of brittle bone disease[J]. Bone,2002,31:12-18.
[22] 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,2007,39:359-365.
[23] van Dijk FS,Nesbitt IM,Zwikstra EH,et al. PPIB mutations cause severe osteogenesis imperfecta[J].Am J Hum Genet,2009,85:521-527.
[24] Christiansen HE,Schwarze U,Pyott SM,et al. Homozygosity for a missense mutation in SERPINH1,which encodes the collagen chaperone protein HSP47,results in severe recessive osteogenesis imperfecta[J].Am J Hum Genet,2010,86:389-398.
[25] Zhou P,Liu Y,Lv F,et al. Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients[J]. PLoS One,2014,9:e107594.
[26] 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,2010,86:551-559.
[27] 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,2010,87:110-114.
[28] Fiscaletti M,Biggin A, Bennetts B, et al. Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment[J]. Bone,2018,110:66-75.
[29] Cho SY,Asharani PV,Kim OH,et al. Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta[J]. Hum Mutat,2015,36:191-195.
[30] Martinez-Glez V,Valencia M,Caparros-Martin JA,et al. Identification of a mutation causing deficient BMP1/m TLD proteolytic activity in autosomal recessive osteogenesis imperfecta[J]. Hum Mutat,2012,33:343-350.
[31] Lv F,Xu XJ,Wang JY,et al. Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta[J]. J Hum Genet, 2016, 61:539-545.
[32] Shaheen R,Alazami AM, Alshammari MJ, et al.Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation[J]. J Med Genet,2012,49:630-635.
[33] Liu Y,Song L,Ma D,et al. Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations[J]. Clin Chim Acta,2016,461:172-180.
[34] Fahiminiya S,Majewski J,Mort J,et al. Mutations in WNT1 are a cause of osteogenesis imperfecta[J]. J Med Genet,2013,50:345-348.
[35] Laine CM,Joeng KS,Campeau PM,et al. WNT1mutations in early-onset osteoporosis and osteogenesis imperfecta[J]. N Engl J Med,2013,368:1809-1816.
[36] Keller RB,Tran TT,Pyott SM,et al. Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively[J]. Genet Med,2018,20:411-419.
[37] Symoens S,Malfait F,D'Hondt S,et al. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans[J].Orphanet J Rare Dis,2013,8:154.
[38] Mendoza-Londono R,Fahiminiya S,Majewski J,et al.Recessive osteogenesis imperfecta caused by missense mutations in SPARC[J]. Am J Hum Genet,2015,96:979-985.
[39] Oeffner F, Fischer G, Happle R, et al. IFAP syndrome is caused by deficiency in MBTPS2,an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response[J]. Am J Hum Genet,2009,84:459-467.
[40] Lv F,Xu X, Song Y, et al. Novel Mutations in PLOD2 Cause Rare Bruck Syndrome[J]. Calcif Tissue Int,2018,102:296-309.
[41] Rauch F,Fahiminiya S,Majewski J,et al. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB[J]. Am J Hum Genet,2015,96:425-431.
[42] Garbes L,Kim K, Riess A, et al. Mutations in SEC24D,encoding a component of the COPII machinery,cause a syndromic form of osteogenesis imperfecta[J]. Am J Hum Genet,2015,96:432-439.
[43] Zhang H,Yue H,Wang C,et al. Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta[J]. Osteoporos Int,2017,28:1473-1480.
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