24/12/24先天性巨结肠先天性巨结肠CongenitalmegacolonCongenitalmegacolon定义定义DefinationDefination•由于直肠或者结肠远端的肠管持续痉挛，粪便淤积在近端结肠，使该肠管肥厚、扩张•Rectalorcolonicintestinalhaspersistentspasmandfecaldepositionintheproximalcolonresultsinhypertrophyanddilatationinproximalsegment.Hirschsprung’sDisease,HD赫什朋氏病Aganglionosis先天性无神经节细胞症Hirschsprung’sDisease,HD赫什朋氏病Aganglionosis先天性无神经节细胞症英文名称Englishname概述概述SummarySummary•一种常见的消化道畸形•Acommondigestivetractmalformation•有遗传倾向，约1.4-7.8%•Geneticpredisposition,about1.4-7.8%•发病率为1:2000-5000•Incidencerateof1:2000-5000•男:女=4:1•Male:female=4:1病因Etiology•病变肠管肌间及粘膜下神经节细胞缺如，是一种发育停顿，停顿越早，无神经节细胞段越长.•Absenceofganglioncellsinmuscleandsubmucosaoflesionbowel.Itisadevelopmentpause.Themoreearlythepauseoccurs,thelongerintestinalsegmentwithoutganglioncellsis.•胚胎期第5周消化道神经母细胞从头端向尾端移行•NeuroblastomacellsofdigestivetractmigratefromthebeginningtotheendInthefifthweekoffetal.NormaldefecationphysiologyNormaldefecationphysiologyNormaldefecationphysiologyNormaldefecationphysiology直肠壶腹潴便经大脑整合，决定排便与否便意直肠肛管抑制反射肛管感受粪便性质骶髓低级中枢肠壁感受器AbsenceofganglioncellsAbsenceofganglioncells•Smoothmuscleoflesionintestinesustainescontraction•AnorectalreflexloopisinterruptedStoolcannotbedischarged.ProximalnormalintestinehascompensatorydilatationandhypertrophyandformshugeexpansiveintestinalsegmentPathologyofcongenitalmegacolon病变肠段呈痉挛样改变(Spasmsegment）近端肠管扩张肥厚，形成巨大结肠(Enlargedsegment)二者之间过度肠段呈漏斗状称移行段(Transformedsegment)正常结肠NormalcolonPathologicalanatomyofcongenitalmegacolon按病变长度Accordingtothelengthoflesionsegment•常见型Ordinarytype(commontype)megacolon(85%):Lesionislimitedinrectumandsigmoidcolon.•短段型Shortsegmenttypemegacolon(10%):Lesionislimitedinthedistal3-4cmofrectum.•长段型Longsegmenttypemegacolon(10%):Lesionreachessplenicflexure,andeventheentirecolon.•全结肠型Totalcolonictype(1%):Lesionreathesentirecolonorevevterminalileum.分型Pathologictypesofcongenitalmegacolon临床表现临床表现ClinicalmanifestationsClinicalmanifestations新生儿期Theneonatalperiod:acutelowincompleteintestinalobstruction•Delayoffetaldischarge•Abdominaldistentionandvomiting•Constipation•WastingandmalnutritionClinicalmanifestationsClinicalmanifestations婴幼儿期：慢性低位肠梗阻Infantandchildhood:subacuteorchroniclowincompleteintestinalobstruction1.反复便秘Recurrentconstipation2.进行性腹胀Progressiveabdominaldistension3.发育迟缓，营养不良Growthretardation,malnutrition并发症并发症ComplicationsComplications多在2个月内发生Occurringwithin2months•肠梗阻Intestinalobstruction•小肠结肠炎Enterocolitis•肠穿孔，腹膜炎Bowelperforationandperitonitis•继发败血症，肺炎Secondarysepsisandpneumonia1、肛门指诊Rectaltouch2、钡灌肠Bariumenema3、直肠肛管测压Anorectalmanometry4、直肠活检Biopsy5、肌电图Electromyogram辅助检查Accessoryexamination钡灌肠钡灌肠XX表现表现BariumenemaX-BariumenemaX-rayray葛X，2y，长段型巨结肠，soaveRPISEScmH2OTime直肠肛管测压检查直肠肛管测压检查30ml40ml50mlInflationReflexInhibitoryReflex10-20”AmplitudeDuration10-20”BalloonBalloonSyringe100ml1-2”3-5”BalloonBalloonSyringe100ml1-2”3-5”30mlBalloonBalloonSyringe100ml1-2”3-5”BalloonBalloonSyringe10...
