2023/9/12先天性巨結(jié)腸

Congenitalmegacolon定義Defination由于直腸或者結(jié)腸遠端的腸管持續(xù)痙攣，糞便淤積在近端結(jié)腸，使該腸管肥厚、擴張Rectal

or

colonic

intestinalhaspersistent

spasmandfecal

depositioninthe

proximalcolonresultsinhypertrophyand

dilatationinproximalsegment.

Hirschsprung’sDisease,HD

赫什朋氏病

Aganglionosis先天性無神經(jīng)節(jié)細胞癥英文名稱Englishname概述Summary

一種常見的消化道畸形Acommondigestive

tractmalformation有遺傳傾向，約1.4-7.8%Geneticpredisposition,

about1.4-7.8%發(fā)病率為1:2000-5000Incidencerateof1:2000-5000男:女=4:1Male:female=4:1病因Etiology病變腸管肌間及粘膜下神經(jīng)節(jié)細胞缺如，是一種發(fā)育停頓，停頓越早，無神經(jīng)節(jié)細胞段越長.Absenceof

ganglioncellsinmuscle

and

submucosaoflesionbowel.Itisadevelopment

pause.

Themoreearlythepauseoccurs,thelongerintestinalsegmentwithoutganglioncellsis.胚胎期第5周消化道神經(jīng)母細胞從頭端向尾端移行Neuroblastoma

cellsofdigestivetractmigrate

fromthebeginningtotheendInthefifthweekoffetal.Normal

defecationphysiology

直腸壺腹潴便經(jīng)大腦整合，決定排便與否便意直腸肛管抑制反射肛管感受糞便性質(zhì)骶髓低級中樞腸壁感受器Absenceof

ganglioncells

Smoothmuscle

oflesionintestinesustainescontraction

Anorectal

reflex

loop

isinterruptedStool

cannotbedischarged.

Proximal

normal

intestinehas

compensatorydilatation

and

hypertrophyandformshugeexpansiveintestinalsegment

Pathology

ofcongenitalmegacolon

病變腸段呈痙攣樣改變(Spasmsegment）近端腸管擴張肥厚，形成巨大結(jié)腸(Enlargedsegment)二者之間過度腸段呈漏斗狀稱移行段(Transformedsegment)正常結(jié)腸Normalcolon

Pathological

anatomyofcongenitalmegacolon

按病變長度Accordingtothelengthoflesionsegment常見型Ordinarytype

(common

type)

megacolon(85%):Lesionis

limitedin

rectumandsigmoidcolon.短段型Short

segmenttypemegacolon(10%):Lesionis

limitedinthe

distal3-4

cm

ofrectum.長段型Long

segmenttypemegacolon(10%):Lesionreachessplenicflexure,

andeven

theentirecolon.全結(jié)腸型Totalcolonic

type(1%):Lesionreathesentire

colonor

evevterminalileum.分型Pathologictypesofcongenitalmegacolon臨床表現(xiàn)Clinicalmanifestations

新生兒期Theneonatalperiod:

acutelow

incompleteintestinalobstruction

Delayoffetal

dischargeAbdominaldistention

andvomitingConstipationWasting

andmalnutritionClinicalmanifestations嬰幼兒期：慢性低位腸梗阻

Infantand

childhood:

subacuteorchronic

low

incompleteintestinalobstruction

反復便秘Recurrent

constipation進行性腹脹Progressiveabdominaldistension發(fā)育遲緩，營養(yǎng)不良Growthretardation,malnutrition并發(fā)癥Complications多在2個月內(nèi)發(fā)生Occurring

within2months腸梗阻Intestinalobstruction小腸結(jié)腸炎Enterocolitis腸穿孔，腹膜炎Bowelperforationandperitonitis繼發(fā)敗血癥，肺炎Secondarysepsisandpneumonia

1、肛門指診

Rectaltouch2、鋇灌腸Bariumenema3、直腸肛管測壓Anorectalmanometry4、直腸活檢Biopsy5、肌電圖Electromyogram

輔助檢查Accessoryexamination

鋇灌腸X表現(xiàn)BariumenemaX-ray葛X，2y，長段型巨結(jié)腸，soaveAnorectalmanometry:

reflection

ofnormalanorectal

reflexdisappears

正常直腸肛管反射腸壁粘膜腺體Intestinal

mucosalglands酶陽性神經(jīng)Enzyme

positivenerve

正常人Normalchild巨結(jié)腸患兒Megacolonchild診斷Diagnosis1、病史Medicalhistory2、鋇灌腸Bariumenema3、直腸肛管測壓力Anorectalmanometry3、直腸黏膜組織活檢

Rectalmucosal

biopsy1、胎糞性便秘Meconiumconstipation

2、新生兒腸閉鎖Neonatal

intestinalatresia3、特發(fā)性巨結(jié)腸Idiopathic

megacolon4、巨結(jié)腸類緣病Neuronalintestinaldysplasia5、肛門內(nèi)括約肌失弛癥Internalanalsphincterachalasia6、繼發(fā)性巨結(jié)腸Secondarymegacolon7、內(nèi)分泌性Endocrinedisease8、乙狀結(jié)腸過長癥Redundantsigmoidcolon

鑒別診斷Differentialdiagnosis先天性巨結(jié)腸Congenital

megacolon繼發(fā)性巨結(jié)腸Secondarymegacolon治療Treatment治療原則:手術(shù)治療,切除病變腸段以及擴張肥厚的腸管Treatmentprinciple:Operation

treatment.Resectionofthelesion

boweland

dilatation

bowel.術(shù)前準備（保守治療）Preoperativepreparation

(conservativetreatment)1、洗腸Intestinallavage2、括肛、通便

Enlarge

anusandinducingdefeation3、緩瀉藥ApplicationofLaxativedrug手術(shù)方式Operation

methods

Sewnon’soperationSoave’soperationDuhamel’soperationRehbein’soperationMartin’soperationSwenson改良術(shù)：

結(jié)腸經(jīng)直腸內(nèi)拖出

（Pull-through）切除術(shù)Soaveprocedure

手術(shù)的基本步驟

Duhameloperation

術(shù)后并發(fā)癥Postoperativecomplications

吻合口感染、泄漏Anastomotic

infectionandleakage尿潴留Retentionofurine小腸結(jié)腸炎Enterocolitis

吻合口狹窄，便秘復發(fā)Anastomotic

stenosisandrecurrentconstipation肛門內(nèi)括約肌損傷Internalanal

sphincterinjury遠期生活質(zhì)量下降Declinedqualityoflifeinlong-term要點Keypoi