先天性消化道畸形的诊断和治疗TheDiagnosisandTreatmentofMalformationofAlimentaryTract一.概述•最常见的先天性畸形•与胚胎期器官、组织、神经发育停顿、终止有关•可分为新生儿期与婴儿期病程。处理原则不尽相同•绝大多数需手术治疗，预后多数较好二.原始消化管的发生原始消化管(Primitivegut)前肠(foregut)中肠(mid-gut)后肠(hind-gut)口底舌咽至十二指肠乳头肝胆囊胆道胰腺十二指肠乳头以下至横结肠右2/3横结肠左1/3至肛管的上段膀胱尿道大部三.先天性消化道畸形从上至下分述食道疾病1.先天性食道闭锁气管食管瘘(congenitalesophagealatresia&tracheoesophagealfistura)2.先天性食管蹼3.先天性食管狭窄esophagealstenosis4.食管重复畸形(esophagealduplication)5.食管憩室(esophagealdiverticula)6.先天性短食道(congentialshortesophagus)7.喉气管食管裂laryngotracheoesophagealfissura8.血管环压迫食道(vascularring)先天性膈疝congenitaldiaphragmatichernia胸腹裂孔疝食道裂孔疝胸骨后疝先天性消化道畸形—胃疾病•先天性肥厚性幽门狭窄congenitalhypertrophicpyloricstenosis•先天性幽门闭锁与狭窄pyloricatresia&stenosis•胃扭转gastricvolvulus•先天性胃壁肌层缺损defectofgastricmuscle•胃重复畸形gastricduplication•胃憩室gastricdiverticula十二指肠疾病十二指肠闭锁与狭窄（隔膜）十二指肠重复畸形十二指肠憩室环状胰腺annularpancreas肠旋转不良abnormalrotationofintestinalloop肠系膜上动脉综合症arterial-mesentericalsupersyndrome十二指肠前门静脉preduodenalportalvein空回肠疾病1.先天性小肠闭锁和狭窄2.小肠重复畸形duplicationofintestine3.卵黄管发育异常(omphalomesentericductmalformation)脐肠瘘patentomphalomesentericductUmbilicalfistula脐窦omphalomesentericductsinus脐茸umbilicalpolyp美克尔憩室Meckel’sdiverticulum卵黄管囊肿omphalomesentericductcyst空回肠疾病4.胎粪性腹膜炎及肠梗阻Meconiumperitonitis&obstractionofintestine5.腹内疝6.小肠罕见畸形（短小肠症小肠脊柱瘘小肠膀胱裂）结肠疾病•先天性巨结肠Hischsprung’sdiseaseHD•先天性巨结肠同源病allieddisordersofHirschsprung’sdisease,ADHD•结肠闭锁与狭窄colonicatresiaandstenosis•结肠重复畸形•结肠憩室•先天性乙状结肠冗长surplusofsigmoid,Dolichasigmoid•先天性短结肠（先天性袋状结肠congenitalpouchcolon,袋状结肠综合症pouchcolonsyndrome）•小左结肠综合症smallleftcolonsyndrome直肠肛管疾病•先天性肛门直肠畸形congenitalmalformationoftheanus&rectum•直肠重复畸形rectalduplication•会阴骶部部畸形malformationofperineumsacrum肝胆疾病•肝脏发育畸形•先天性胆管扩张症（胆总管囊肿congenitalcholedochalcyst）•胆道闭锁(biliaryatresia)四.临床表现Clinicalmanifestation•呕吐Vomiting•腹胀Abdominaldistension•便秘Constipation•腹部体症五.辅助检查•X线：腹部平片（正位、卧位、侧位、倒立位）CTMRI•B超•同位素扫描•生化实验肝功AKP呕吐Vomiting1.呕吐时间•与消化道畸形部位有关•与病变发展有关：幽门肥厚性狭窄肠旋转不良2.呕吐物性质、量胃液、奶质、胆汁、粪质、血性3.呕吐动作溢奶、恶心呕吐、喷射状腹部体征•腹部平坦或凹陷•上腹胀、胃型、胃蠕动波•全腹胀、肠型排便情况•胎便排出时间胎便量•有无正常胎便•肛指检查直肠有无紧缩感、爆破样排便X线检查腹部平片立位片：腹部无气、单泡影、双泡影、三泡影肠胀气气液平倒立位X片（侧位片）消化道钡餐钡剂灌肠巨结肠B超：肠腔扩大、蠕动波、幽门肌测定、直肠闭锁位置测量CT、MRI其它检查：肛直肠测压、组织化学检测、肌电仪、放射性核素检查（99mTc腹部扫描）实验室指标：肝功AKP消化道畸形的治疗•以手术治疗为主先天性肥厚性幽门狭窄先天性肥厚性幽门狭窄手术肠旋转不良手术肠旋转不良手术肠闭锁吻合术PENA’S肛门成型术.小肠重复畸形会阴肛门成型术PENA’S肛门成型术先天性消化道畸形•消化管狭窄或闭锁•回肠憩室meckels’diverticulum•Umbilicalfistula脐瘘•先天性脐疝congenitalumbilicalhernia•Congenitalmegacolon•肛直肠畸形•肠旋转不良abnormalrotationofintestinalloop•胆总管囊肿胆道闭锁•环状胰腹胰和背胰愈合异常
