Li Hongxing,Tang Weibing.Clinical characteristics of gastrointestinal malformations during neonatal period and discussion on early diagnostic methods[J].Journal of Clinical Pediatric Surgery,2022,21(09):820-826.[doi:10.3760/cma.j.cn101785-202205033-005]
新生儿消化道畸形的临床特点及早期诊断方法探讨
- Title:
- Clinical characteristics of gastrointestinal malformations during neonatal period and discussion on early diagnostic methods
- 关键词:
- 畸形; 严重畸胎样/外科学; 消化系统/病理生理学; 消化系统/影像诊断
- 摘要:
- 目的 分析新生儿消化道畸形的主要临床特点，探讨有效的早期检查方法，以促进消化道畸形的早期诊断与早期干预，改善患儿预后。方法 收集2019年1月至2021年12月经南京医科大学附属儿童医院手术证实为消化道畸形的新生儿资料（包括性别、入院日龄、首发症状时间、出生体重、住院天数），消化道畸形疾病构成及主要临床特点，术前相关检查及诊断准确率。本研究共收集到资料完整病例507例，包括肛门直肠畸形（166例）、肠闭锁和肠狭窄（93例）、先天性肥厚性幽门狭窄（84例）、肠旋转不良（72例）、环状胰腺（43例）、胃肠重复畸形（11例）、肠神经发育异常症（11例）、先天性胃壁肌层缺损（9例）、脐肠瘘（7例）、胎粪性腹膜炎（7例）、梅克尔憩室（2例）、先天性肠系膜畸形（2例），其中男376例，女131例，足月儿433例，出生体重为（3157.53 ±596.50） g。肛门直肠畸形病例共166例，其中27例因原始影像结果测量数据缺失未纳入统计，其余139例肛门直肠畸形患儿按照手术方式分为会阴肛门成形术组（76例）和结肠造口术组（63例）。比较两组腹部倒立侧位X线检查直肠盲端至肛隐窝的距离，并通过受试者工作特征曲线（receiver operating characteristic curve，ROC）评估直肠盲端至肛隐窝距离对手术方式选择的指导价值。结果 消化道畸形患儿总体入院日龄为生后2.0（1.0，8.0） d，首发症状时间为生后1.0（1.0，4.5） d，住院时间为13.0（8.0，19.0） d。新生儿消化道畸形以肛门直肠畸形、肠闭锁和肠狭窄、先天性肥厚性幽门狭窄常见，临床表现主要为呕吐（311/507，61.34%）、腹胀（239/507，47.14%）及胎便异常（159/507，31.36%）。术前X线检查阳性479例，总体阳性率达94.48%；腹部超声检查阳性186例，阳性率36.69%；产前超声检查异常116例，阳性率22.88%。ROC分析结果表明，直肠盲端至肛隐窝距离对手术方式的选择具有指导意义，准确率为73.2%，最佳阈值20.5 mm，敏感性为74.6%，特异性为64.5%。结论 新生儿消化道畸形中不同疾病发病时间及临床表现各有特点，临床表现主要为呕吐、腹胀及胎便异常；X线检查准确率高，但产前、产后超声检查对消化道畸形的早期诊断具有重要价值，提倡在消化道畸形早期诊断中应用超声检查。
- Abstract:
- Objective To explore effective early detection methods, promote the early diagnosis and intervention of gastrointestinal malformations and improve the prognosis through examining the major clinical features of gastrointestinal malformations during neonatal period.Methods From January 2019 to December 2021, complete clinical data were retrospectively reviewed for 507 neonates with surgically confirmed gastrointestinal malformations. Gender, age at admission, time of symptom onset, birth weight, length of hospital stay, composition and major symptoms and accuracy of preoperative examinations were recorded. There were anorectal malformation (n=166), intestinal atresia & stricture (n=93), congenital hypertrophic pyloric stenosis (n=84), intestinal malrotation (n=72), annular pancreas (43 cases), gastrointestinal tract duplication (n=11), enteric neuropathies (n=11), congenital gastric wall muscle defect (n=9), umbilical intestinal fistula (n=7), meconium peritonitis (n=7), Meckel’s diverticulum (n=2), and congenital mesenteric malformation (n=2). There were 376 boys and 131 girls with a birth weight of (3 157.53±596.50) g. And 433 of them were full-term. A total of 139 cases were collected by measuring the distance from blind rectal end to anal recess on abdominal upside down lateral radiograph. The other 27 cases were not included in the statistics due to the lack of measurement data of the original imaging results. Receiver operating characteristic curve (ROC) analysis of perineal anoplasty (n=76) and colostomy groups (n=63) was performed.Results The median age of admission was 2.0(1.0, 8.0) days after birth, the median time to first symptoms 1.0(1.0, 4.5) days after birth and the median length of hospital stay 13.0(8.0, 19.0) days. Anorectal malformation, intestinal atresia & strictureand congenital hypertrophic pyloric stenosis were the most common digestive tract malformations in the neonatal period. The major clinical manifestations were vomiting (311/507, 61.34%), abdominal distension (239/507, 47.14%) and abnormal meconium (159/507, 31.36%). Preoperative radiographic examination was positive in 479 cases with an overall positive rate of 94.48%, abdominal ultrasound positive in 186 cases with a positive rate of 36.69% and prenatal ultrasound abnormal in 116 cases with a positive rate of 22.88%. ROC analysis showed that the distance from blind rectal end to anal recess had guiding significance for selecting surgical approaches. The accuracy rate was 73.2% and the optimal threshold 20.5 mm with a sensitivity of 74.6% and a specificity of 64.5%.Conclusion Onset time and clinical manifestations of different congenital gastrointestinal malformations have their unique characteristics.Major clinical manifestations include vomiting, abdominal distension and abnormal meconium.Radiography has a high accuracy.And prenatal and postpartum B-ultrasound are vital for an early diagnosis of gastrointestinal malformations.The popularization and application of B-ultrasound is recommended for an early diagnosis of gastrointestinal malformations.
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备注/Memo
收稿日期:2022-05-10。
基金项目:国家自然科学基金面上项目（81870372）
通讯作者:唐维兵,E-mail:twbcn@njmu.edu.cn