发育性髋关节脱位病因学研究进展
摘要
<正>发育性髋关节脱位(DDH)或发育性髋关节发育不良是小儿骨科最常见的四肢畸形,过去曾称为先天性髋关节脱位,其分为髋臼发育不良、髋关节半脱位、髋关节脱位3种类型。DDH发生在患儿出生时或在发育过程中,病变长期存在导致关节软骨退行性改变,股骨头半脱位,甚至局灶性坏死、严重骨关节炎,严重危害儿童健康。该病已引起儿科医生的广泛重视,早期诊断、早期治疗对该病的预后至关重要。目前该病病因尚不明确,但大多认为该病是多种因素引起的,本文就近年来对DDH病因研究进展综述如下。
引文
[1]Salter RB.Etiology,pathogenesis and possible prevention of congenital dislocation of the hip[J].Can Med Assoc J,1968,98(20):933-945.
[2]Mc Kibbin B.Anatomical factors in the stability of the hip joint in the newbon[J].J Bone Joint Surg Br,1970,52(1):148-159.
[3]吉士俊,周永德.先天性髋脱位临床与研究[M].沈阳:沈阳出版社,1994:17.
[4]Soran N,Altindag O,Aksoy N,et al.The association of serum prolidase activity with developmental dysplasia of the hip[J].Rheumatol Int,2013,33(8):1939-1942.
[5]Hukins DL.胶原对生物组织的增强作用[J].力学进展,1998,28(3):414-419.
[6]Malfait F,Hakim AJ,De Paepe A,et al.The genetic basis of the joint hypermobility syndromes[J].Rheumatology(Oxford),2006,45(5):502-507.
[7]李洪秋,王恩波,阿良,等.发育性髋关节脱位关节囊(胶原)组织偏光显微镜观察及临床病理意义[J].中华小儿外科杂志,2009,3(8):529-532.
[8]王恩波,赵群.发育性髋脱位髋关节囊中Ⅰ、Ⅲ型胶原的免疫组化研究[J].中华小儿外科杂志,2007,28(5):250-253.
[9]李洪秋,阿良,王恩波,等.偏光显微镜观察发育性髋关节脱位圆韧带组织的病理变化[J].中国组织工程研究与临床康复,2009,13(41):8057-8060.
[10]张怀波,胡月光,俞松.雌激素受体在发育性髋关节脱位患儿髋臼软骨中的表达[J].中华小儿外科杂志,2009,30(12):890-892.
[11]张天久,胡月光.雌激素受体在发育性髋关节脱位髋关节囊中的表达[J].实用儿科临床杂志,2012,27(5):386-387.
[12]Desteli EE,Piskin A,Gulman AB,et al.Estrogen receptors in hip joint capsule and ligamentum capitis femoris of babies with developmental dysplasia of the hip[J].Acta Orthop Traumatol Turc,2013,47(3):158-161.
[13]Wilkinson JA.Prime factors in the etiology of congenital dislocation of the hip[J].J Bone Joint Surg Br,1963,45(2):268-283.
[14]Akeson WH,Woo SL,Amiel D,et al.Value of 17beta-oestradiol in prevention of contracture formation[J].Ann Rheum Dis,1975,35(5):429-436.
[15]Amanda M,Rhodes L,Clarke N.A review of environmental factors implicated in human developmental dysplasia of the hip[J].J Child Orthop,2014,8(5):375-379.
[16]Vogel I,Andersson J,Uldjberg N.Serum relaxin in the newborn is not a marker of neonatal hip instability[J].J Pediatr Orthop,1998,18(4):535-537.
[17]刘卫东.先天性髋关节脱位[J].中国矫形外科杂志,2004,12(增3):1731-1733.
[18]陈汝虹,芦胜群,苏圆圆.臀位致先天性髋关节脱位的病因分析及预防[J].中国冶金工业医学杂志,2001,18(3):139-140.
[19]孙德立,肖毅.发育性髋关节脱位诊断与治疗[M].济南:济南出版社,2002:9.
[20]宋亚梅.发育性髋关节脱位的研究[J].中国伤残医学,2010,18(6):186-187.
[21]Blatt Sh.To swaddle,or not to swaddle?Paleoepidemiology of developmental dysplasia of the hip and the swaddling dilemma among the indigenous populations of North America[J].Am J Huma Biol,2015,27(1):116-128.
[22]Ceylaner G,Ceylaner S,Ustunkan F,et al.Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family[J].Acta Orthop Traumatol Turc,2008,42(4):289-291.
[23]Sionek A,Czubak J,Kornacka M,et al.Evaluation of risk factors in developmental dysplasia of the hip in children from multiple pregnancies:results of hip ultrasonography using Grafs method[J].Ortop Traumatol Rehabil,2008,10(2):115-130.
[24]Shi DQ,Dai J,Ikegawa S,et al.Genetic study on developmental dysplasia of the hip[J].Eur J Clin Invest,2012,42(10):1121-1125.
[25]Dai J,Shi D,Zhu P,et al.Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip:a casecontrol study[J].Arthritis Res Ther,2008,10(5):R126.
[26]Rouault K,Scotet V,Autret S,et al.Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population[J].Osteoarthritis Cartilage,2010,18(9):1144-1149.
[27]Naiche LA,Papaioannou VE.Loss of Tbx4 blocks hindlimb development and affects vascularization and fusion of the allantois[J].Development,2003,130(12):2681-2693.
[28]Naiche LA,Papaioannou VE.Tbx4 is not required for hindlimb identity or post-bud hindlimb outgrowth[J].Development,2007,134(1):93-103.
[29]Wang K,Shi D,Zhu P,et al.Association of a single nucleotide polymorphism in Tbx4 with developmental dyspla sia of the hip:a case-control study[J].Osteoarthritis Cartilage,2010,18(2):1592-1595.
[30]Shi D,Dai J,Zhu P,et al.Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip:a case-control study in Han Chinese[J].Arthritis Res Ther,2011,13(1):R27.
[31]Jia J,Li L,Zhao Q,et al.Association of a single nucleotide polymorphism in pregnancy-associated plasma protein A2 with developmental dysplasia of the hip:a case-control study[J].Osteoarthritis Cartilage,2012,20(1):60-63.
[32]Kapoor B,Dunlop C,Wynn-Jones C,et al.Vitamin D and oestrogen receptor polymorphisms in developmental dysplasia of the hip and primary protrusio acetabulia preliminary study[J].J Negat Results Biomed,2007,6:7.
[33]Rouault K,Scotet V,Autret S,et al.Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip?Study in a Caucasian population[J].Osteoarthritis Cartilage,2009,17(8):1099-1105.
[34]Rubini M,Cavallaro A,Calzolari E,et al.Exclusion of COL2A1 and VDR as developmental dysplasia of the hip genes[J].Clin Orthop Relat Res,2008,466(4):878-883.
[35]Zhu L,Shi D,Dai J,et al.Lack of evidence for association between DVWA gene polymorphisms and developmental dysplasia of the hip in Chinese Han population[J].Rheumatol Int,2011,131(7):883-887.
[2]Mc Kibbin B.Anatomical factors in the stability of the hip joint in the newbon[J].J Bone Joint Surg Br,1970,52(1):148-159.
[3]吉士俊,周永德.先天性髋脱位临床与研究[M].沈阳:沈阳出版社,1994:17.
[4]Soran N,Altindag O,Aksoy N,et al.The association of serum prolidase activity with developmental dysplasia of the hip[J].Rheumatol Int,2013,33(8):1939-1942.
[5]Hukins DL.胶原对生物组织的增强作用[J].力学进展,1998,28(3):414-419.
[6]Malfait F,Hakim AJ,De Paepe A,et al.The genetic basis of the joint hypermobility syndromes[J].Rheumatology(Oxford),2006,45(5):502-507.
[7]李洪秋,王恩波,阿良,等.发育性髋关节脱位关节囊(胶原)组织偏光显微镜观察及临床病理意义[J].中华小儿外科杂志,2009,3(8):529-532.
[8]王恩波,赵群.发育性髋脱位髋关节囊中Ⅰ、Ⅲ型胶原的免疫组化研究[J].中华小儿外科杂志,2007,28(5):250-253.
[9]李洪秋,阿良,王恩波,等.偏光显微镜观察发育性髋关节脱位圆韧带组织的病理变化[J].中国组织工程研究与临床康复,2009,13(41):8057-8060.
[10]张怀波,胡月光,俞松.雌激素受体在发育性髋关节脱位患儿髋臼软骨中的表达[J].中华小儿外科杂志,2009,30(12):890-892.
[11]张天久,胡月光.雌激素受体在发育性髋关节脱位髋关节囊中的表达[J].实用儿科临床杂志,2012,27(5):386-387.
[12]Desteli EE,Piskin A,Gulman AB,et al.Estrogen receptors in hip joint capsule and ligamentum capitis femoris of babies with developmental dysplasia of the hip[J].Acta Orthop Traumatol Turc,2013,47(3):158-161.
[13]Wilkinson JA.Prime factors in the etiology of congenital dislocation of the hip[J].J Bone Joint Surg Br,1963,45(2):268-283.
[14]Akeson WH,Woo SL,Amiel D,et al.Value of 17beta-oestradiol in prevention of contracture formation[J].Ann Rheum Dis,1975,35(5):429-436.
[15]Amanda M,Rhodes L,Clarke N.A review of environmental factors implicated in human developmental dysplasia of the hip[J].J Child Orthop,2014,8(5):375-379.
[16]Vogel I,Andersson J,Uldjberg N.Serum relaxin in the newborn is not a marker of neonatal hip instability[J].J Pediatr Orthop,1998,18(4):535-537.
[17]刘卫东.先天性髋关节脱位[J].中国矫形外科杂志,2004,12(增3):1731-1733.
[18]陈汝虹,芦胜群,苏圆圆.臀位致先天性髋关节脱位的病因分析及预防[J].中国冶金工业医学杂志,2001,18(3):139-140.
[19]孙德立,肖毅.发育性髋关节脱位诊断与治疗[M].济南:济南出版社,2002:9.
[20]宋亚梅.发育性髋关节脱位的研究[J].中国伤残医学,2010,18(6):186-187.
[21]Blatt Sh.To swaddle,or not to swaddle?Paleoepidemiology of developmental dysplasia of the hip and the swaddling dilemma among the indigenous populations of North America[J].Am J Huma Biol,2015,27(1):116-128.
[22]Ceylaner G,Ceylaner S,Ustunkan F,et al.Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family[J].Acta Orthop Traumatol Turc,2008,42(4):289-291.
[23]Sionek A,Czubak J,Kornacka M,et al.Evaluation of risk factors in developmental dysplasia of the hip in children from multiple pregnancies:results of hip ultrasonography using Grafs method[J].Ortop Traumatol Rehabil,2008,10(2):115-130.
[24]Shi DQ,Dai J,Ikegawa S,et al.Genetic study on developmental dysplasia of the hip[J].Eur J Clin Invest,2012,42(10):1121-1125.
[25]Dai J,Shi D,Zhu P,et al.Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip:a casecontrol study[J].Arthritis Res Ther,2008,10(5):R126.
[26]Rouault K,Scotet V,Autret S,et al.Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population[J].Osteoarthritis Cartilage,2010,18(9):1144-1149.
[27]Naiche LA,Papaioannou VE.Loss of Tbx4 blocks hindlimb development and affects vascularization and fusion of the allantois[J].Development,2003,130(12):2681-2693.
[28]Naiche LA,Papaioannou VE.Tbx4 is not required for hindlimb identity or post-bud hindlimb outgrowth[J].Development,2007,134(1):93-103.
[29]Wang K,Shi D,Zhu P,et al.Association of a single nucleotide polymorphism in Tbx4 with developmental dyspla sia of the hip:a case-control study[J].Osteoarthritis Cartilage,2010,18(2):1592-1595.
[30]Shi D,Dai J,Zhu P,et al.Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip:a case-control study in Han Chinese[J].Arthritis Res Ther,2011,13(1):R27.
[31]Jia J,Li L,Zhao Q,et al.Association of a single nucleotide polymorphism in pregnancy-associated plasma protein A2 with developmental dysplasia of the hip:a case-control study[J].Osteoarthritis Cartilage,2012,20(1):60-63.
[32]Kapoor B,Dunlop C,Wynn-Jones C,et al.Vitamin D and oestrogen receptor polymorphisms in developmental dysplasia of the hip and primary protrusio acetabulia preliminary study[J].J Negat Results Biomed,2007,6:7.
[33]Rouault K,Scotet V,Autret S,et al.Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip?Study in a Caucasian population[J].Osteoarthritis Cartilage,2009,17(8):1099-1105.
[34]Rubini M,Cavallaro A,Calzolari E,et al.Exclusion of COL2A1 and VDR as developmental dysplasia of the hip genes[J].Clin Orthop Relat Res,2008,466(4):878-883.
[35]Zhu L,Shi D,Dai J,et al.Lack of evidence for association between DVWA gene polymorphisms and developmental dysplasia of the hip in Chinese Han population[J].Rheumatol Int,2011,131(7):883-887.