您的位置: 首页 > 2023年5月 第54卷 第5期 > 文字全文
2023年7月 第38卷 第7期11
目录

先天性巨结肠早期诊断的研究进展

来源期刊: 广州医药 | 1-6 发布时间:2023-07-12 收稿时间:2025/11/13 18:34:01 阅读量:31
作者:
关键词:
先天性巨结肠婴幼儿临床诊断
DOI:
10.3969/j.issn.1000-8535.2023.05.001
收稿时间:
2023-03-07 
修订日期:
 
接收日期:
 
引用总数:
1  
先天性巨结肠是遗传背景复杂的先天性肠神经系统发育异常性疾病,也是小儿外科临床工作中的常见疾病,以消化道末端肠神经节缺如为典型病理特点,肠梗阻、肠穿孔、严重的巨结肠相关性小肠结肠炎是疾病的主要并发症,尤其在低龄婴幼儿起病的病例中,仍是围术期死亡的主要原因。近些年来,越来越多的学者在解析其发病机制、遗传特征、治疗手段等方面不断探索创新,但在低龄婴幼儿,尤其是新生儿期寻找创伤小、特异性高、普适性强的早诊方法仍面临巨大挑战,早发现、早干预可以有效改善患儿的生活质量及疾病预后。本文对先天性巨结肠相关的早期诊断方法进行了系统综述,以期在传统经典的诊断方法上,不断创新求索,综合不同方法的利弊,提高临床应用中的诊断效能,为疾病早期诊断方面的研究提供理论基础。
1、 LIU H,LUO Y,LI S,et al.Expression profiles of HA117 and its neighboring gene DPF3 in different colon segments of Hirschsprung's disease[J].Int J Clin Exp Pathol,2014,7(7):3966-3974. LIU H,LUO Y,LI S,et al.Expression profiles of HA117 and its neighboring gene DPF3 in different colon segments of Hirschsprung's disease[J].Int J Clin Exp Pathol,2014,7(7):3966-3974.
2、 SHEN Z,DU C,ZANG R,et al.Microarray expression profiling of dysregulated long non-coding RNAs in Hirschsprung's disease reveals their potential role in molecular diagnosis[J].Neurogastroenterol Motil,2016,28(2):266-273. SHEN Z,DU C,ZANG R,et al.Microarray expression profiling of dysregulated long non-coding RNAs in Hirschsprung's disease reveals their potential role in molecular diagnosis[J].Neurogastroenterol Motil,2016,28(2):266-273.
3、 CESANA M,CACCHIARELLI D,LEGNINI I,et al.A long noncoding RNA controls muscle differentiation by functioning as a competing endogenous RNA[J].Cell,2011,147(2):358-369. CESANA M,CACCHIARELLI D,LEGNINI I,et al.A long noncoding RNA controls muscle differentiation by functioning as a competing endogenous RNA[J].Cell,2011,147(2):358-369.
4、 ZHU H,CAI P,ZHU D,et al.A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese[J].Exp Mol Pathol,2014,97(3):511-514. ZHU H,CAI P,ZHU D,et al.A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese[J].Exp Mol Pathol,2014,97(3):511-514.
5、 TANG W,LI H,TANG J,et al.Specific serum microRNA profile in the molecular diagnosis of Hirschsprung's disease[J].J Cell Mol Med,2014,18(8):1580-1587. TANG W,LI H,TANG J,et al.Specific serum microRNA profile in the molecular diagnosis of Hirschsprung's disease[J].J Cell Mol Med,2014,18(8):1580-1587.
6、 OGATA-KAWATA H,IZUMIYA M,KURIOKA D,et al.Circulating exosomal microRNAs as biomarkers of colon cancer[J].PLoS One,2014,9(4):e92921. OGATA-KAWATA H,IZUMIYA M,KURIOKA D,et al.Circulating exosomal microRNAs as biomarkers of colon cancer[J].PLoS One,2014,9(4):e92921.
7、 HONG L,HAN Y,ZHANG H,et al.Prognostic markers in esophageal cancer:from basic research to clinical use[J].Expert Rev Gastroenterol Hepatol,2015,9(7):887-889. HONG L,HAN Y,ZHANG H,et al.Prognostic markers in esophageal cancer:from basic research to clinical use[J].Expert Rev Gastroenterol Hepatol,2015,9(7):887-889.
8、 ROBERTS T C,MORRIS K V,WOOD M J.The role of long non-coding RNAs in neurodevelopment,brain function and neurological disease[J].Philos Trans R Soc Lond B Biol Sci,2014,369(1652):20130507. ROBERTS T C,MORRIS K V,WOOD M J.The role of long non-coding RNAs in neurodevelopment,brain function and neurological disease[J].Philos Trans R Soc Lond B Biol Sci,2014,369(1652):20130507.
9、 BARBASH S,SHIFMAN S,SOREQ H.Global coevolution of human microRNAs and their target genes[J].Mol Biol Evol,2014,31(5):1237-1247. BARBASH S,SHIFMAN S,SOREQ H.Global coevolution of human microRNAs and their target genes[J].Mol Biol Evol,2014,31(5):1237-1247.
10、 LOUW A M,KOLAR M K,NOVIKOVA L N,et al.Chitosan polyplex mediated delivery of miRNA-124 reduces activation of microglial cells in vitro and in rat models of spinal cord injury[J].Nanomedicine,2016,12(3):643-653. LOUW A M,KOLAR M K,NOVIKOVA L N,et al.Chitosan polyplex mediated delivery of miRNA-124 reduces activation of microglial cells in vitro and in rat models of spinal cord injury[J].Nanomedicine,2016,12(3):643-653.
11、 URLA C,LIEBER J,OBERMAYR F,et al.Surgical treatment of children with total colonic aganglionosis:functional and metabolic long-term outcome[J].BMC Surg,2018,18(1):58. URLA C,LIEBER J,OBERMAYR F,et al.Surgical treatment of children with total colonic aganglionosis:functional and metabolic long-term outcome[J].BMC Surg,2018,18(1):58.
12、 FRITH T J R,GOGOLOU A,HACKLAND J O S,et al.Retinoic acid accelerates the specification of enteric neural progenitors from in-vitro-derived neural crest[J].Stem Cell Reports,2020,15(3):557-565. FRITH T J R,GOGOLOU A,HACKLAND J O S,et al.Retinoic acid accelerates the specification of enteric neural progenitors from in-vitro-derived neural crest[J].Stem Cell Reports,2020,15(3):557-565.
13、 FRIEDMACHER F,PURI P.Hirschsprung's disease associated with Down syndrome:a meta-analysis of incidence,functional outcomes and mortality[J].Pediatr Surg Int,2013,29(9):937-946. FRIEDMACHER F,PURI P.Hirschsprung's disease associated with Down syndrome:a meta-analysis of incidence,functional outcomes and mortality[J].Pediatr Surg Int,2013,29(9):937-946.
14、 YANG W,CHEN S C,LAI J Y,et al.Distinctive genetic variation of long-segment Hirschsprung's disease in Taiwan[J].Neurogastroenterol Motil,2019,31(11):e13665. YANG W,CHEN S C,LAI J Y,et al.Distinctive genetic variation of long-segment Hirschsprung's disease in Taiwan[J].Neurogastroenterol Motil,2019,31(11):e13665.
15、 TANG C S,KARIM A,ZHONG Y,et al.Genetics of Hirschsprung's disease[J].Pediatr Surg Int 2023,39(1):104. TANG C S,KARIM A,ZHONG Y,et al.Genetics of Hirschsprung's disease[J].Pediatr Surg Int 2023,39(1):104.
16、 SABERI R A,GILNA G P,SLAVIN B V,et al.Hirschsprung disease in Down syndrome:An opportunity for improvement[J].J Pediatr Surg,2022,57(6):1040-1044. SABERI R A,GILNA G P,SLAVIN B V,et al.Hirschsprung disease in Down syndrome:An opportunity for improvement[J].J Pediatr Surg,2022,57(6):1040-1044.
17、 KE J,ZHU Y,MIAO X.The advances of genetics research on Hirschsprung's disease[J].Pediatr Investig,2018,2(3):189-195. KE J,ZHU Y,MIAO X.The advances of genetics research on Hirschsprung's disease[J].Pediatr Investig,2018,2(3):189-195.
18、 BURKARDT D D,GRAHAM J M Jr,SHORT S S,et al.Advances in Hirschsprung disease genetics and treatment strategies:an update for the primary care pediatrician[J].Clin Pediatr(Phila),2014,53(1):71-81. BURKARDT D D,GRAHAM J M Jr,SHORT S S,et al.Advances in Hirschsprung disease genetics and treatment strategies:an update for the primary care pediatrician[J].Clin Pediatr(Phila),2014,53(1):71-81.
19、 HEUCKEROTH R O.Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes[J].Nat Rev Gastroenterol Hepatol,2018,15(3):152-167. HEUCKEROTH R O.Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes[J].Nat Rev Gastroenterol Hepatol,2018,15(3):152-167.
20、 HENDERSON D,ZIMMER J,NAKAMURA H,et al.Hirschsprung's disease in twins:a systematic review and meta-analysis[J].Pediatr Surg Int,2017,33(8):855-859. HENDERSON D,ZIMMER J,NAKAMURA H,et al.Hirschsprung's disease in twins:a systematic review and meta-analysis[J].Pediatr Surg Int,2017,33(8):855-859.
21、 GRANELI C,ERLOV T,MITEV R M,et al.Ultra high frequency ultrasonography to distinguish ganglionic from aganglionic bowel wall in Hirschsprung disease:A first report[J].J Pediatr Surg 2021,56(12):2281-2285. GRANELI C,ERLOV T,MITEV R M,et al.Ultra high frequency ultrasonography to distinguish ganglionic from aganglionic bowel wall in Hirschsprung disease:A first report[J].J Pediatr Surg 2021,56(12):2281-2285.
22、 SHIMOJIMA N,KOBAYASHI M,KAMBA S,et al.Visualization of the human enteric nervous system by confocal laser endomicroscopy in Hirschsprung's disease:An alternative to intraoperative histopathological diagnosis?[J].Neurogastroenterol Motil,2020,32(5):e13805. SHIMOJIMA N,KOBAYASHI M,KAMBA S,et al.Visualization of the human enteric nervous system by confocal laser endomicroscopy in Hirschsprung's disease:An alternative to intraoperative histopathological diagnosis?[J].Neurogastroenterol Motil,2020,32(5):e13805.
23、 CORON E,AUKSORIUS E,PIERETTI A,et al.Full-field optical coherence microscopy is a novel technique for imaging enteric ganglia in the gastrointestinal tract[J].Neurogastroenterol Motil,2012,24(12):e611-621. CORON E,AUKSORIUS E,PIERETTI A,et al.Full-field optical coherence microscopy is a novel technique for imaging enteric ganglia in the gastrointestinal tract[J].Neurogastroenterol Motil,2012,24(12):e611-621.
24、 FRYKMAN P K,LINDSLEY E H,GAON M,et al.Spectral imaging for precise surgical intervention in Hirschsprung's disease[J].J Biophotonics,2008,1(2):97-103. FRYKMAN P K,LINDSLEY E H,GAON M,et al.Spectral imaging for precise surgical intervention in Hirschsprung's disease[J].J Biophotonics,2008,1(2):97-103.
25、 YOSHIMARU K,TAGUCHI T,OBATA S,et al.Immunostaining for Hu C/D and CD56 is useful for a definitive histopathological diagnosis of congenital and acquired isolated hypoganglionosis[J].Virchows Arch,2017,470(6):679-685. YOSHIMARU K,TAGUCHI T,OBATA S,et al.Immunostaining for Hu C/D and CD56 is useful for a definitive histopathological diagnosis of congenital and acquired isolated hypoganglionosis[J].Virchows Arch,2017,470(6):679-685.
26、 CHI S,FANG M,LI K,et al.Diagnosis of Hirschsprung's disease by immunostaining rectal suction biopsies for calretinin,S100 protein and protein gene product 9.5[J].J Vis Exp,2019(146). CHI S,FANG M,LI K,et al.Diagnosis of Hirschsprung's disease by immunostaining rectal suction biopsies for calretinin,S100 protein and protein gene product 9.5[J].J Vis Exp,2019(146).
27、 KAPUR R P.Calretinin-immunoreactive mucosal innervation in very short-segment Hirschsprung disease:a potentially misleading observation[J].Pediatr Dev Pathol,2014,17(1):28-35. KAPUR R P.Calretinin-immunoreactive mucosal innervation in very short-segment Hirschsprung disease:a potentially misleading observation[J].Pediatr Dev Pathol,2014,17(1):28-35.
28、 KAPUR R P,RAESS P W,HWANG S,et al.choline transporter immunohistochemistry:an effective substitute for acetylcholinesterase histochemistry to diagnose hirschsprung disease with formalin-fixed paraffin-embedded rectal biopsies[J].Pediatr Dev Pathol,2017,20(4):308-320. KAPUR R P,RAESS P W,HWANG S,et al.choline transporter immunohistochemistry:an effective substitute for acetylcholinesterase histochemistry to diagnose hirschsprung disease with formalin-fixed paraffin-embedded rectal biopsies[J].Pediatr Dev Pathol,2017,20(4):308-320.
29、 VERAS L V,ARNOLD M,AVANSINO J R,et al.Guidelines for synoptic reporting of surgery and pathology in Hirschsprung disease[J].J Pediatr Surg,2019,54(10):2017-2023. VERAS L V,ARNOLD M,AVANSINO J R,et al.Guidelines for synoptic reporting of surgery and pathology in Hirschsprung disease[J].J Pediatr Surg,2019,54(10):2017-2023.
30、 MUISE E D,HARDEE S,MOROTTI R A,et al.A comparison of suction and full-thickness rectal biopsy in children[J].J Surg Res,2016,201(1):149-155. MUISE E D,HARDEE S,MOROTTI R A,et al.A comparison of suction and full-thickness rectal biopsy in children[J].J Surg Res,2016,201(1):149-155.
31、 MEINDS R J,KUIPER G A,PARRY K,et al.infant's age influences the accuracy of rectal suction biopsies for diagnosing of hirschsprung's disease[J].Clin Gastroenterol Hepatol,2015,13(10):1801-1807. MEINDS R J,KUIPER G A,PARRY K,et al.infant's age influences the accuracy of rectal suction biopsies for diagnosing of hirschsprung's disease[J].Clin Gastroenterol Hepatol,2015,13(10):1801-1807.
32、 PENA-VELEZ R,TORO-MONJARAZ E,AVELAR-RODRIGUEZ D,et al.Alterations in the rectal sensitivity of children with chronic constipation evaluated by high-resolution anorectal manometry[J].Cureus,2022,14(9):e28835. PENA-VELEZ R,TORO-MONJARAZ E,AVELAR-RODRIGUEZ D,et al.Alterations in the rectal sensitivity of children with chronic constipation evaluated by high-resolution anorectal manometry[J].Cureus,2022,14(9):e28835.
33、 TABBERS M M,DILORENZO C,BERGER M Y,et al.Evaluation and treatment of functional constipation in infants and children:evidence-based recommendations from ESPGHAN and NASPGHAN[J].J Pediatr Gastroenterol Nutr,2014,58(2):258-274. TABBERS M M,DILORENZO C,BERGER M Y,et al.Evaluation and treatment of functional constipation in infants and children:evidence-based recommendations from ESPGHAN and NASPGHAN[J].J Pediatr Gastroenterol Nutr,2014,58(2):258-274.
34、 de LORIJN F,KREMER L C,REITSMA J B,et al.Diagnostic tests in Hirschsprung disease:a systematic review[J].J Pediatr Gastroenterol Nutr,2006,42(5):496-505. de LORIJN F,KREMER L C,REITSMA J B,et al.Diagnostic tests in Hirschsprung disease:a systematic review[J].J Pediatr Gastroenterol Nutr,2006,42(5):496-505.
35、 MULLER C O,MIGNOT C,BELARBI N,et al.Does the radiographic transition zone correlate with the level of aganglionosis on the specimen in Hirschsprung's disease?[J].Pediatr Surg Int,2012,28(6):597-601. MULLER C O,MIGNOT C,BELARBI N,et al.Does the radiographic transition zone correlate with the level of aganglionosis on the specimen in Hirschsprung's disease?[J].Pediatr Surg Int,2012,28(6):597-601.
36、 DEMEHRI F R,HALAWEISH I F,CORAN A G,et al.Hirschsprung-associated enterocolitis:pathogenesis,treatment and prevention[J].Pediatr Surg Int,2013,29(9):873-881. DEMEHRI F R,HALAWEISH I F,CORAN A G,et al.Hirschsprung-associated enterocolitis:pathogenesis,treatment and prevention[J].Pediatr Surg Int,2013,29(9):873-881.
37、 LANGER J C.Hirschsprung disease[J].Curr Opin Pediatr,2013,25(3):368-374. LANGER J C.Hirschsprung disease[J].Curr Opin Pediatr,2013,25(3):368-374.
38、 中华医学会小儿外科学分会肛肠学组、新生儿学组.先天性巨结肠的诊断及治疗专家共识[J].中华小儿外科杂志,2017,38(11):805-815. 中华医学会小儿外科学分会肛肠学组、新生儿学组.先天性巨结肠的诊断及治疗专家共识[J].中华小儿外科杂志,2017,38(11):805-815.
39、 FRIEDMACHER F,PURI P.Rectal suction biopsy for the diagnosis of Hirschsprung's disease:a systematic review of diagnostic accuracy and complications[J].Pediatr Surg Int,2015,31(9):821-830. FRIEDMACHER F,PURI P.Rectal suction biopsy for the diagnosis of Hirschsprung's disease:a systematic review of diagnostic accuracy and complications[J].Pediatr Surg Int,2015,31(9):821-830.
40、 张彦,夏慧敏.先天性巨结肠的遗传发病机制及前瞻性队列研究进展[J].临床小儿外科杂志,2018,17(2):90-93. 张彦,夏慧敏.先天性巨结肠的遗传发病机制及前瞻性队列研究进展[J].临床小儿外科杂志,2018,17(2):90-93.
1、张超,付琦,高颖颖.以家庭为中心的干预模式在经肛门改良Soave根治术治疗先天性巨结肠患儿中的应用效果[J].临床医学研究与实践,2025,10(10):138-141.DOI:10.19347/j.cnki.2096-1413.202510035. 张超,付琦,高颖颖.以家庭为中心的干预模式在经肛门改良Soave根治术治疗先天性巨结肠患儿中的应用效果[J].临床医学研究与实践,2025,10(10):138-141.DOI:10.19347/j.cnki.2096-1413.202510035.
下一篇
出版者信息








《广州医药》公众号
目录