Pediatric Orthopedics Group,Chinese Society of Pediatric Surgery.Expert Consensus on the Clinical Diagnosis and Treatment of Congenital Pseudarthrosis of the Tibia (2024 Edition)[J].Journal of Clinical Pediatric Surgery,2024,(12):1106-1116.[doi:10.3760/cma.j.cn101785-202412029-002]
先天性胫骨假关节临床诊治专家共识(2024版)
- Title:
- Expert Consensus on the Clinical Diagnosis and Treatment of Congenital Pseudarthrosis of the Tibia (2024 Edition)
- 摘要:
- 先天性胫骨假关节(congenital pseudarthrosis of tibia,CPT)是一种治疗困难、致残率极高的先天性疾病。患儿出生时或出生后短期内即发生胫骨骨折,骨折一旦发生几乎不能自愈,最终形成假关节。目前,对于CPT尚未形成一致的、具有临床指导意义的诊疗意见。为规范CPT的诊治和指导临床实践,中华医学会小儿外科学分会小儿骨科学组召集国内相关领域专家,对近年来相关研究成果进行全面总结,充分吸纳各位专家意见之后,制定出《先天性胫骨假关节临床诊治专家共识(2024版)》。该共识围绕CPT 的病因病理机制、临床表现、主要并发症、治疗及预后等达成了一致性见解。
- Abstract:
- Congenital pseudarthrosis of the tibia (CPT) is a rare congenital disorder that is challenging to treat and has a high disability rate.Affected children experience tibial fractures at birth or shortly after,and once the fracture occurs,it rarely heals spontaneously,ultimately leading to pseudarthrosis.Currently,no standardized and clinically practical guidelines for CPT management exist.To standardize the diagnosis and treatment of CPT and to guide clinical practice,the Pediatric Orthopedics Group of Chinese Society of Pediatric Surgery convened experts in the relevant fields.After a comprehensive review of recent research findings and integrating expert opinions,the Expert Consensus on the Clinical Diagnosis and Treatment of Congenital Pseudarthrosis of the Tibia (2024 Edition) was developed.This consensus provides unified views on the etiology,pathology,pathogenesis,clinical manifestations,complications,treatment,and prognosis of CPT.
参考文献/References:
[1] Vander Have KL,Hensinger RN,Caird M,et al.Congenital pseudarthrosis of the tibia[J].J Am Acad Orthop Surg,2008,16(4):228-236.DOI:10.5435/00124635-200804000-00006.
[2] Deng HJ,Mei HB,Wang EB,et al.The association between fibular status and frontal plane tibial alignment post-union in congenital pseudarthrosis of the tibia[J].J Child Orthop,2021,15(3):261-269.DOI:10.1302/1863-2548.15.200255.
[3] Boyd HB.Pathology and natural history of congenital pseudarthrosis of the tibia[J].Clin Orthop Relat Res,1982,166:5-13.
[4] Andersen KS.Congenital pseudarthrosis of the tibia and neurofibromatosis[J].Acta Orthop Scand,1976,47(1):108-111.DOI:10.3109/17453677608998981.
[5] Pais C.Congenital pseudarthrosis of the tibia[J].Rev Chir Orthop Reparatrice Appar Mot,1953,39(5/6):701-707.
[6] Morrissy RT,Riseborough EJ,Hall JE.Congenital pseudarthrosis of the tibia[J].J Bone Joint Surg Br,1981,63-B(3):367-375.DOI:10.1302/0301-620X.63B3.6790551.
[7] Sofield HA.Congenital pseudarthrosis of the tibia[J].Clin Orthop Relat Res,1971,76:33-42.DOI:10.1097/00003086-197105000-00008.
[8] Khan T,Joseph B.Controversies in the management of congenital pseudarthrosis of the tibia and fibula[J].Bone Joint J,2013,95-B(8):1027-1034.DOI:10.1302/0301-620X.95B8.31434.
[9] Zhou YJ,Tan Q,Liu K,et al.Epidemiological and clinical characteristics of congenital pseudarthrosis of the tibia in China[J].Front Pediatr,2022,10:943917.DOI:10.3389/fped.2022.943917.
[10] Vitale MG,Guha A,Skaggs DL.Orthopaedic manifestations of neurofibromatosis in children:an update[J].Clin Orthop Relat Res,2002,401:107-118.
[11] 简书浪,梅海波.儿童先天性胫骨假关节分型方法与治疗策略研究进展[J].中华小儿外科杂志,2023,44(3):281-288.DOI:10.3760/cma.j.cn421158-20211213-00607. Jian SL,Mei HB.Advances of classifying and managing congenital pseudarthrosis of the tibia in children[J].Chin J Pediatr Surg,2023,44(3):281-288.DOI:10.3760/cma.j.cn421158-20211213-00607.
[12] Andersen KS.Radiological classification of congenital pseudarthrosis of the tibia[J].Acta Orthop Scand,1973,44(6):719-727.DOI:10.3109/17453677308989112.
[13] Crawford AH Jr,Bagamery N.Osseous manifestations of neurofibromatosis in childhood[J].J Pediatr Orthop,1986,6(1):72-88.DOI:10.1097/01241398-198601000-00015.
[14] Paley D.Congenital pseudarthrosis of the tibia:biological and biomechanical considerations to achieve union and prevent refracture[J].J Child Orthop,2019,13(2):120-133.DOI:10.1302/1863-2548.13.180147.
[15] 刘尧喜,梅海波,刘昆,等.一种新的儿童先天性胫骨假关节的X线分型[J].中华小儿外科杂志,2016,37(1):29-33.DOI:10.3760/cma.j.issn.0253-3006.2016.01.007. Liu YX,Mei HB,Liu K,et al.A new radiographic classification scheme of congenital pseudarthrosis of the tibia[J].Chin J Pediatr Surg,2016,37(1):29-33.DOI:10.3760/cma.j.issn.0253-3006.2016.01.007.
[16] Williams VC,Lucas J,Babcock MA,et al.Neurofibromatosis type 1 revisited[J].Pediatrics,2009,123(1):124-133.DOI:10.1542/peds.2007-3204.
[17] El-Rosasy MAM.Congenital pseudarthrosis of the tibia:the outcome of a pathology-oriented classification system and treatment protocol[J].J Pediatr Orthop B,2020,29(4):337-347.DOI:10.1097/BPB.0000000000000660.
[18] Zhu GH,Zheng Y,Liu YX,et al.Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants:genetic and clinical analysis of 75 patients[J].Orphanet J Rare Dis,2019,14(1):221.DOI:10.1186/s13023-019-1196-0.
[19] Zheng Y,Zhu GH,Liu YX,et al.Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis:21% with somatic NF1 haploinsufficiency in the periosteum[J].Hum Genet,2022,141(8):1371-1383.DOI:10.1007/s00439-021-02429-2.
[20] Agrawal U,Tiwari V.Congenital tibial pseudarthrosis[M].Treasure Island (FL):StatPearls Publishing,2023.
[21] 刘尧喜,陈琰,郑宇,等.儿童先天性胫骨假关节病变骨膜组织的蛋白质组学研究[J].中华骨科杂志,2021,41(2):92-102.DOI:10.3760/cma.j.cn121113-20200920-00570. Liu YX,Chen Y,Zheng Y,et al.Proteomics investigation on periosteum of children with tibia congenital pseudarthrosis[J].Chin J Orthop,2021,41(2):92-102.DOI:10.3760/cma.j.cn121113-20200920-00570.
[22] Ippolito E,Corsi A,Grill F,et al.Pathology of bone lesions associated with congenital pseudarthrosis of the leg[J].J Pediatr Orthop B,2000,9(1):3-10.DOI:10.1097/01202412-200001000-00002.
[23] Mariaud-Schmidt RP,Rosales-Quintana S,Bitar E,et al.Hamartoma involving the pseudarthrosis site in patients with neurofibromatosis type 1[J].Pediatr Dev Pathol,2005,8(2):190-196.DOI:10.1007/s10024-004-1004-1.
[24] Kuorilehto T,Kinnunen P,Nissinen M,et al.Vasculopathy in two cases of NF1-related congenital pseudarthrosis[J].Pathol Res Pract,2006,202(9):687-690.DOI:10.1016/j.prp.2006.03.006.
[25] Cho TJ,Seo JB,Lee HR,et al.Biologic characteristics of fibrous hamartoma from congenital pseudarthrosis of the tibia associated with neurofibromatosis type 1[J].J Bone Joint Surg Am,2008,90(12):2735-2744.DOI:10.2106/JBJS.H.00014.
[26] Li ZY,Liu YX,Huang YY,et al.Circ_0000888 regulates osteogenic differentiation of periosteal mesenchymal stem cells in congenital pseudarthrosis of the tibia[J].iScience,2023,26(10):107923.DOI:10.1016/j.isci.2023.107923.
[27] 刘尧喜,刘昆,伍江雁,等.克氏针髓内固定治疗一岁以内先天性胫骨假关节的临床研究[J].中华小儿外科杂志,2019,40(10):930-934.DOI:10.3760/cma.j.issn.0253-3006.2019.10.013. Liu YX,Liu K,Wu JY,et al.Preliminary outcomes of intramedullary fixation of Kirschner’s wire for congenital pseudarthrosis of tibia in children aged under 1 year[J].Chin J Pediatr Surg,2019,40(10):930-934.DOI:10.3760/cma.j.issn.0253-3006.2019.10.013.
[28] Liu YX,Mei HB,Zhu GH,et al.Congenital pseudarthrosis of the tibia in children:should we defer surgery until 3 years old?[J].J Pediatr Orthop B,2018,27(1):17-25.DOI:10.1097/BPB.0000000000000468.
[29] 梅海波,赫荣国,刘昆,等.联合手术技术治疗儿童先天性胫骨假关节[J].中华小儿外科杂志,2012,33(6):421-425.DOI:10.3760/cma.j.issn.0253-3006.2012.06.005. Mei HB,He RG,Liu K,et al.Intramedullary rod combined with ring external fixation for treatment of congenital pseudarthrosis of tibia in children[J].Chin J Pediatr Surg,2012,33(6):421-425.DOI:10.3760/cma.j.issn.0253-3006.2012.06.005.
[30] 伍江雁,梅海波,刘尧喜,等.三合一骨融合术在儿童先天性胫骨假关节联合手术中的应用[J].中华小儿外科杂志,2017,38(9):691-697.DOI:10.3760/cma.j.issn.0253-3006.2017.09.010. Wu JY,Mei HB,Liu YX,et al.Application of 3-in-1 osteosynthesis in combined surgical technique for congenital pseudarthrosis of the tibia in children[J].Chin J Pediatr Surg,2017,38(9):691-697.DOI:10.3760/cma.j.issn.0253-3006.2017.09.010.
[31] Liu YX,Yang G,Liu K,et al.Combined surgery with 3-in-1 osteosynthesis in congenital pseudarthrosis of the tibia with intact fibula[J].Orphanet J Rare Dis,2020,15(1):62.DOI:10.1186/s13023-020-1330-z.
[32] 刘尧喜,梅海波,刘昆,等.四合-骨融合术在儿童先天性胫骨假关节联合手术中的应用[J].中华骨科杂志,2016,36(12):770-777.DOI:10.3760/cma.j.issn.0253-2352.2016.12.003. Liu YX,Mei HB,Liu K,et al.Application of "4-in-1 osteosynthesis" in the combined surgical technique for the treatment of congenital pseudarthrosisof tibia in children[J].Chin J Orthop,2016,36(12):770-777.DOI:10.3760/cma.j.issn.0253-2352.2016.12.003.
[33] Choi IH,Lee SJ,Moon HJ,et al."4-in-1 osteosynthesis" for atrophic-type congenital pseudarthrosis of the tibia[J].J Pediatr Orthop,2011,31(6):697-704.DOI:10.1097/BPO.0b013e318221ebce.
[34] 刘尧喜,张学军,郭跃明,等.儿童先天性胫骨假关节行不同术式疗效的多中心临床研究[J].中华小儿外科杂志,2020,41(10):933-937.DOI:10.3760/cma.j.cn421158-20200520-00355. Liu YX,Zhang XJ,Guo YM,et al.A multicenter clinical trial on the efficacy of different surgical procedures for congenital pseudarthrosis of tibia in children[J].Chin J Pediatr Surg,2020,41(10):933-937.DOI:10.3760/cma.j.cn421158-20200520-00355.
[35] 刘尧喜,杨戈,胡雄科,等.联合手术治疗儿童先天性胫骨假关节的长期随访评价[J].中华外科杂志,2023,61(8):675-680.DOI:10.3760/cma.j.cn112139-20230205-00051. Liu YX,Yang G,Hu XK,et al.Long term follow-up evaluation of combined surgery for congenital tibial pseudarthrosis in children[J].Chin J Surg,2023,61(8):675-680.DOI:10.3760/cma.j.cn112139-20230205-00051.
[36] 简书浪,毛庆庆,许思宇,等.先天性胫骨前外侧弯曲畸形并发胫骨骨折的危险因素分析[J].中华骨科杂志,2023,43(17):1164-1173.DOI:10.3760/cma.j.cn121113-20230419-00246. Jian SL,Mao QQ,Xu SY,et al.Risk factors analysis for tibial fracture in patients with congenital anterolateral bowing of the tibia[J].Chin J Orthop,2023,43(17):1164-1173.DOI:10.3760/cma.j.cn121113-20230419-00246.
[37] Laine JC,Novotny SA,Weber EW,et al.Distal tibial guided growth for anterolateral bowing of the tibia:fracture may be prevented[J].J Bone Joint Surg Am,2020,102(23):2077-2086.DOI:10.2106/JBJS.20.00657.
[38] Grill F,Bollini G,Dungl P,et al.Treatment approaches for congenital pseudarthrosis of tibia:results of the EPOS multicenter study.European Paediatric Orthopaedic Society (EPOS)[J].J Pediatr Orthop B,2000,9(2):75-89.DOI:10.1097/01202412-200004000-00002.
[39] Whelan DB,Bhandari M,Stephen D,et al.Development of the radiographic union score for tibial fractures for the assessment of tibial fracture healing after intramedullary fixation[J].J Trauma,2010,68(3):629-632.DOI:10.1097/TA.0b013e3181a7c16d.
[40] Richards BS,Wilkes D,Dempsey M,et al.A radiographic scoring system to assess healing in congenital pseudarthrosis of the tibia[J].J Pediatr Orthop B,2015,24(2):118-122.DOI:10.1097/BPB.0000000000000141.
[41] Uchida Y,Kojima T,Sugioka Y.Vascularised fibular graft for congenital pseudarthrosis of the tibia.Long-term results[J].J Bone Joint Surg Br,1991,73(5):846-850.DOI:10.1302/0301-620X.73B5.1894680.
[42] Richards BS,Anderson TD.rhBMP-2 and intramedullary fixation in congenital pseudarthrosis of the tibia[J].J Pediatr Orthop,2018,38(4):230-238.DOI:10.1097/BPO.0000000000000789.
[43] Kesireddy N,Kheireldin RK,Lu A,et al.Current treatment of congenital pseudarthrosis of the tibia:a systematic review and meta-analysis[J].J Pediatr Orthop B,2018,27(6):541-550.DOI:10.1097/BPB.0000000000000524.
[44] Shah H,Rousset M,Canavese F.Congenital pseudarthrosis of the tibia:management and complications[J].Indian J Orthop,2012,46(6):616-626.DOI:10.4103/0019-5413.104184.
[45] Eisenberg KA,Vuillermin CB.Management of congenital pseudoarthrosis of the tibia and fibula[J].Curr Rev Musculoskelet Med,2019,12(3):356-368.DOI:10.1007/s12178-019-09566-2.
[46] Paley D.Congenital pseudarthrosis of the tibia:combined pharmacologic and surgical treatment using biphosphonate intravenous infusion and bone morphogenic protein with periosteal and cancellous autogenous bone grafting,tibio-fibular cross union,intramedullary[M]//Zorzi AR,De Miranda JB.Bone Grafting.London:IntechOpen,2012,91-106.DOI:10.5772/31149.
[47] Crawford AH.Neurofibromatosis in children[J].Acta Orthop Scand,1986,57(218):8-60.DOI:10.3109/17453678609156819.
[48] Paley D,Catagni M,Argnani F,et al.Treatment of congenital pseudoarthrosis of the tibia using the Ilizarov technique[J].Clin Orthop Relat Res,1992,280:81-93.
[49] Horn J,Steen H,Terjesen T.Epidemiology and treatment outcome of congenital pseudarthrosis of the tibia[J].J Child Orthop,2013,7(2):157-166.DOI:10.1007/s11832-012-0477-0.
[50] Mathieu L,Vialle R,Thevenin-Lemoine C,et al.Association of Ilizarov’s technique and intramedullary rodding in the treatment of congenital pseudarthrosis of the tibia[J].J Child Orthop,2008,2(6):449-455.DOI:10.1007/s11832-008-0139-4.
[51] Rauch F,Travers R,Plotkin H,et al.The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta[J].J Clin Invest,2002,110(9):1293-1299.DOI:10.1172/JCI15952.
[52] Siebert MJ,Makarewich CA.Anterolateral tibial bowing and congenital pseudoarthrosis of the tibia:current concept review and future directions[J].Curr Rev Musculoskelet Med,2022,15(6):438-446.DOI:10.1007/s12178-022-09779-y.
[53] Yu H,Li ZY,Tan Q,et al.Association between preoperative concurrent fibular pseudarthrosis and risk of postoperative ankle valgus in patients with congenital pseudarthrosis of the tibia[J].BMJ Paediatr Open,2023,7(1):e001763.DOI:10.1136/bmjpo-2022-001763.
[54] Stevens PM,Kennedy JM,Hung M.Guided growth for ankle valgus[J].J Pediatr Orthop,2011,31(8):878-883.DOI:10.1097/BPO.0b013e318236b1df.
[55] Paley D.Principles of deformity correction[M].Berlin:Spri-nger,2002.
[56] Li ZY,Yu H,Huang YY,et al.Analysis of risk factors affecting union and refracture after combined surgery for congenital pseudarthrosis of the tibia:a retrospective study of 255 cases[J].Orphanet J Rare Dis,2022,17(1):245.DOI:10.1186/s13023-022-02375-w.
[57] Cho TJ,Choi IH,Lee SM,et al.Refracture after Ilizarov osteosynthesis in atrophic-type congenital pseudarthrosis of the tibia[J].J Bone Joint Surg Br,2008,90(4):488-493.DOI:10.1302/0301-620X.90B4.20153.
[58] 刘尧喜,梅海波,刘昆,等.儿童先天性胫骨假关节愈合后的X线分型与术后再骨折的相关性研究[J].中华外科杂志,2016,54(6):456-460.DOI:10.3760/cma.j.issn.0529-5815.2016.06.013. Liu YX,Mei HB,Liu K,et al.Correlative study between X-ray type after healing of congenital pseudarthrosis of the tibia in children and postoperative refracture[J].Chin J Surg,2016,54(6):456-460.DOI:10.3760/cma.j.issn.0529-5815.2016.06.013.
[59] Li R,Saleh M,Yang L,et al.Radiographic classification of osteogenesis during bone distraction[J].J Orthop Res,2006,24(3):339-347.DOI:10.1002/jor.20026.
[60] Hu XK,Li AP,Liu K,et al.Efficacy comparison of 3 kinds of distal tibial hemiepiphyseal implants in the treatment of postoperative ankle valgus of congenital pseudarthrosis of the tibia[J].J Pediatr Orthop,2022,42(5):e441-e447.DOI:10.1097/BPO.0000000000002101.
[61] Dai ZZ,Liang ZP,Li H,et al.Temporary hemiepiphysiodesis using an eight-plate implant for coronal angular deformity around the knee in children aged less than 10 years:efficacy,complications,occurrence of rebound and risk factors[J].BMC Musculoskelet Disord,2021,22(1):53.DOI:10.1186/s12891-020-03915-w.
[62] Nahm NJ,Makarewich CA,Rosenwasser KA,et al.Does an osteotomy performed in congenital pseudarthrosis of the tibia heal?[J].J Pediatr Orthop,2022,42(6):e630-e635.DOI:10.1097/BPO.0000000000002148.
相似文献/References:
[1]陆良生阮双岁毕允力陆毅群王翔葛琳娟肖现民.45例两性畸形患儿的诊断及治疗分析[J].临床小儿外科杂志,2011,10(01):0.
[2]谷奇,邹继珍,叶辉,等.促纤维增生性小圆细胞肿瘤诊治体会[J].临床小儿外科杂志,2008,7(01):32.
[3]孙颖华,郑珊,钱蔷英,等.超声检查在胆道闭锁鉴别诊断中的运用价值[J].临床小儿外科杂志,2008,7(04):0.
[4]何炜婧,郑珊,沈淳,等.新生儿腹膜后占位性病变诊治分析[J].临床小儿外科杂志,2008,7(06):5.
[5]张颖,李洪秋,赵群,等.儿童骨嗜酸细胞性肉芽肿的诊断与治疗[J].临床小儿外科杂志,2007,6(01):23.
[6]蒋跃先.845例小儿急性肠套叠诊治体会[J].临床小儿外科杂志,2007,6(02):30.
[7]蒋宏 陈华东 张志崇 潘静 刘钧澄.3例婴儿腹腔巨大积水的诊治体会[J].临床小儿外科杂志,2011,10(03):231.
[J].Journal of Clinical Pediatric Surgery,2011,10(12):231.
[8]张生 金先庆 李晓庆 周德凯 向丽 刘伟. 先天性肠闭锁、肠狭窄120例临床分析[J].临床小儿外科杂志,2011,10(04):273.
[J].Journal of Clinical Pediatric Surgery,2011,10(12):273.
[9]苏琳 王晓晔 崔华雷. 52例儿童腹型过敏性紫癜诊疗分析[J].临床小儿外科杂志,2012,11(01):28.
[10]王伟 贾慧敏 王一. 直肠肛门抑制反射诊断先天性巨结肠符合率的临床分析[J].临床小儿外科杂志,2012,11(01):30.
备注/Memo
收稿日期:2024-12-10。
基金项目:国家自然科学基金青年科学基金(82101818、62306109);儿童骨科学湖南省重点实验室(2023TP1019);国家重点研发计划(2023YFC2507605)
通讯作者:梅海波,Email:meihaibo@sina.com;张学军,Email:zhang-x-j04@163.com