[1]谢华,唐维兵.规范、统一先天性巨结肠分型的建议[J].临床小儿外科杂志,2021,20(03):212-216.[doi:10.12260/lcxewkzz.2021.03.003]
 Xie Hua,Tang Weibing.Unifying the classification of Hirschsprung’s disease[J].Journal of Clinical Pediatric Surgery,2021,20(03):212-216.[doi:10.12260/lcxewkzz.2021.03.003]
点击复制

规范、统一先天性巨结肠分型的建议

参考文献/References:

1 Wang X,Chan AK,Sham MH,et al.Analysis of the sacral neural crest cell contribution to the hindgut enteric nervous system in the mouse embryo[J].Gastroenterology,2011,141(3):992-1002.DOI:10.1053/j.gastro.2011.06.002.
2 Anderson RB,Stewart AL,Young HM.Phenotypes of neural-crest-derived cells in vagal and sacral pathways[J].Cell Tissue Res,2006,323(1):11-25.DOI:10.1007/s00441-005-0047-6.
3 Swenson O,Rheinlander HF,Diamond I.Hirschsprung’s disease;a new concept of the etiology;operative results in 34 patients[J].N Engl J Med,1949,241(15):551-556.DOI:10.1056/NEJM194910132411501.
4 Bodian M,Carter CO,Ward BC.Hirschsprung’s disease[J].Lancet,1951,1(6650):302-309.DOI:10.1016/s0140-6736(51)92290-8.
5 Zuelzer WW,Wilson JL.Functional intestinal obstruction on a congenital neurogenic basis in infancy[J].Am J Dis Child,1948,75(1):40-64.DOI:10.1001/archpedi.1948.02030020047005.
6 中华医学会小儿外科学分会肛肠学组.先天性巨结肠症围手术期管理专家共识[J].中华小儿外科杂志,2018,39(6):404-410.DOI:10.3760/cma.j.issn.0253-3006.2018.06.002. Anorectal Group,Branch of Pediatric Surgery,Chinese Medical Association:Guidelines of Perioperative Management of Hirschspung’s disease[J].Chinese Journal of Pediatric Surgery,2018,39(6):404-410.DOI:10.3760/cma.j.issn.0253-3006.2018.06.002.
7 谢崇,潘伟康,高亚,等.我国大陆地区先天性巨结肠症诊疗情况调查[J].中华小儿外科杂志,2018,39(6):411-418.DOI:10.3760/cma.j.issn.0253-3006.2018.06.003. Xie C,Pan WK,Gao Y,et al.Surveying the diagnosis and management of Hirschsprung’s disease in mainland China[J].Chin J Pediatr Surg,2018,39(6):411-418.DOI:10.3760/cma.j.issn.0253-3006.2018.06.003.
8 Tang CS,Zhuang X,Lam WY,et al.Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing[J].Eur J Hum Genet,2018,26(6):818-826.DOI:10.1038/s41431-018-0129-z.
9 Tang CS,Li P,Lai FP,et al.Identification of genes associated with hirschsprung disease,based on whole-genome sequence analysis,and potential effects on enteric nervous system development[J].Gastroenterology,2018,155(6):1908-1922.DOI:10.1053/j.gastro.2018.09.012.
10 Bjornland K,Pakarinen MP,Stenstrom P,et al.A Nordic multicenter survey of long-term bowel function after transanal endorectal pull-through in 200 patients with rectosigmoid Hirschsprung disease[J].J Pediatr Surg,2017,52(9):1458-1464.DOI:10.1016/j.jpedsurg.2017.01.001.
11 Thomson D,Allin B,Long AM,et al.Laparoscopic assistance for primary transanal pull-through in Hirschsprung’s disease:a systematic review and meta-analysis[J].BMJ Open,2015,5(3):e6063.DOI:10.1136/bmjopen-2014-006063.
12 Zheng Z,Zhang F,Jin Z,et al.Transanal endorectal stepwise gradient muscular cuff cutting pull-through method:Technique refinements and comparison with laparoscopy-assisted procedures[J].Exp Ther Med,2018,16(3):2144-2151.DOI:10.3892/etm.2018.6414.
13 Badner JA,Sieber WK,Garver KL,et al.A genetic study of Hirschsprung disease[J].Am J Hum Genet,1990,46(3):568-580.
14 Alves MM,Sribudiani Y,Brouwer RW,et al.Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model[J].Dev Biol,2013,382(1):320-329.DOI:10.1016/j.ydbio.2013.05.019.
15 Brooks AS,Bertoli-Avella AM,Burzynski GM,et al.Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems[J].Am J Hum Genet,2005,77(1):120-126.DOI:10.1086/431244.
16 Jiang Q,Arnold S,Heanue T,et al.Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability[J].Am J Hum Genet,2015,96(4):581-596.DOI:10.1016/j.ajhg.2015.02.014.
17 Tang CS,Ngan ES,Tang WK,et al.Mutations in the NRG1 gene are associated with Hirschsprung disease[J].Hum Genet,2012,131(1):67-76.DOI:10.1007/s00439-011-1035-4.
18 Torroglosa A,Enguix-Riego MV,Fernandez RM,et al.Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system[J].Genet Med,2014,16(9):703-710.DOI:10.1038/gim.2014.17.
19 Emison ES,Garcia-Barcelo M,Grice EA,et al.Differential contributions of rare and common,coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability[J].Am J Hum Genet,2010,87(1):60-74.DOI:10.1016/j.ajhg.2010.06.007.
20 Luzon-Toro B,Fernandez RM,Torroglosa A,et al.Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients[J].PLoS One,2013,8(1):e54800.DOI:10.1371/journal.pone.0054800.
21 Luzon-Toro B,Torroglosa A,Nunez-Torres R,et al.Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients[J].PLoS One,2012,7(5):e36524.DOI:10.1371/journal.pone.0036524.
22 Kim JH,Cheong HS,Sul JH,et al.A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease[J].PLoS One,2014,9(10):e110292.DOI:10.1371/journal.pone.0110292.
23 Hoehner JC,Ein SH,Shandling B,et al.Long-term morbidity in total colonic aganglionosis[J].J Pediatr Surg,1998,33(7):961-966.DOI:10.1016/s0022-3468(98)90515-2.
24 Obata S,Fukahori S,Yagi M,et al.Internal anal sphincter achalasia:data from a nationwide survey of allied disorders of Hirschsprung’s disease in Japan[J].Surg Today,2017,47(12):1429-1433.DOI:10.1007/s00595-017-1532-8.
25 Georgeson KE,Fuenfer MM,Hardin WD.Primary laparoscopic pull-through for Hirschsprung’s disease in infants and children[J].J Pediatr Surg,1995,30(7):1017-1022.DOI:10.1016/0022-3468(95)90333-x.
26 De la Torre-Mondragon L,Ortega-Salgado JA.Transanal endorectal pull-through for Hirschsprung’s disease[J].J Pediatr Surg,1998,33(8):1283-1286.DOI:10.1016/s0022-3468(98)90169-5.
27 李颀,孔赤寰,张震,等.经肠镜放置减压管后腹腔镜一期根治术治疗长段型先天性巨结肠[J].中华小儿外科杂志,2018,39(12):889-894.DOI:10.3760/cma.j.issn.0253-3006.2018.12.003. Li Q,Kong CH,Zhang Z,et al.Endoscopic placement of decompression tube for long-segment Hirschsprung’s disease[J].Chin J Pediatr Surg,2018,39(12):889-894.DOI:10.3760/cma.j.issn.0253-3006.2018.12.003.
28 Lu C,Xie H,Li H,et al.Feasibility and efficacy of home rectal irrigation in neonates and early infancy with Hirschsprung disease[J].Pediatr Surg Int,2019,35(11):1245-1253.DOI:10.1007/s00383-019-04552-8.
29 Drissi F,Meurette G,Baayen C,et al.Long-term outcome of hirschsprung disease:impact on quality of life and social condition at adult age[J].Dis Colon Rectum,2019,62(6):727-732.DOI:10.1097/DCR.0000000000001363.
30 Allin BS,Irvine A,Patni N,et al.Variability of outcome reporting in Hirschsprung’s Disease and gastroschisis:a systematic review[J].Sci Rep,2016,6:38969.DOI:10.1038/srep38969.
31 Laughlin DM,Friedmacher F,Puri P.Total colonic aganglionosis:a systematic review and meta-analysis of long-term clinical outcome[J].Pediatr Surg Int,2012,28(8):773-779.DOI:10.1007/s00383-012-3117-3.

相似文献/References:

[1]曾纪晓,徐晓钢.先天性巨结肠诊疗规范化的再思考[J].临床小儿外科杂志,2021,20(03):201.[doi:10.12260/lcxewkzz.2021.03.001]
 Zeng Jixiao,Xu Xiaogang.Some focal issues of standardizing the diagnosis and treatment of Hirschsprung’s disease[J].Journal of Clinical Pediatric Surgery,2021,20(03):201.[doi:10.12260/lcxewkzz.2021.03.001]
[2]虞梅,葛郁荣,石静,等.超声助显剂灌肠与X线钡灌肠在先天性巨结肠诊断中的应用价值[J].临床小儿外科杂志,2021,20(03):236.[doi:10.12260/lcxewkzz.2021.03.007]
 Yu Mei,Ge Yurong,Shi Jing,et al.Ultrasound-assisted enema plus X-ray barium enema for diagnosing Hirschsprung’s disease: a retrospective study[J].Journal of Clinical Pediatric Surgery,2021,20(03):236.[doi:10.12260/lcxewkzz.2021.03.007]

备注/Memo

收稿日期:2020-08-25。
基金项目:国家自然科学基金资助项目(编号:81870372,81700449)
通讯作者:唐维兵,Email:twbcn@163.com

更新日期/Last Update: 1900-01-01