摘要
目的 总结新生儿期起病的儿童假性肠梗阻(pediatric intestinal pseudo-obstruction,PIPO)的临床特点.方法 选择2016年7月至2023年3月广州医科大学附属妇女儿童医疗中心新生儿外科收治的新生儿期起病的PIPO患儿为研究对象,回顾性分析其起病特点、临床表现、影像学检查、病理结果及预后资料.结果 共纳入10例PIPO患儿,男、女各5例,多在生后24h内出现症状,呕吐(6/10)、腹胀(6/10)最常见,其次为胎粪排出延迟(3/10),腹胀合并发热或休克各1例.所有患儿首诊时腹部X线片均可见广泛肠管扩张,盆腔未见充气肠管影.8例患儿行消化道造影检查,3例诊断上消化道梗阻,3例见小结肠,2例未见异常.2例初步诊断为巨膀胱-小结肠-肠蠕动不良综合征,余8例初诊时未考虑PIPO.4例合并消化系统外疾病.4例行全外显子组测序分析,2例未见异常,1例ACTG2基因变异,1例EP300基因变异.所有患儿均行手术治疗,1例行膀胱造口术,9例行肠造口术及肠组织活检,术中均未发现明确器质性病变,术后病理肠神经节细胞减少7例,肠神经节细胞未见异常2例.10例患儿平均随访至36.9月龄(1.5～82.5月龄),2例因放弃治疗、肠衰竭死亡,8例存活.存活患儿中,6例完全经口喂养,2例仍需部分肠外营养支持;6例营养状况正常,中度、重度营养不良各l例.结论 新生儿期起病的PIPO早期表现为呕吐、腹胀,较难与其他肠梗阻类疾病鉴别,肠组织病理检查、消化道造影及基因检测有助于尽早识别该病.
Abstract
Objectives To summarize the clinical characteristics of neonatal-onset pediatric intestinal pseudo-obstruction(PIPO)cases.Methods Patients diagnosed with neonatal-onset PIPO admitted to the Department of Neonatal Surgery of Guangzhou Women and Children's Medical Center from July 2016 to March 2023 were enrolled.Clinical data and follow-up data such as the onset characteristics,clinical manifestations,imaging examinations,and pathological findings were collected for retrospective analysis.Results A total of 10 cases of neonatal-onset PIPO were included,with five males and five females.Seven cases showed initial symptoms within 24 h after birth.Emesis(6/10)and abdominal distension(6/10)were the most common initial symptoms,followed by delayed meconium discharge(3/10).Abdominal distension combined with fever or shock as initial symptom was seen in one case each.Extensive intestinal dilatation with the absence of inflatable intestinal shadow in the pelvic cavity appeared in the abdominal X-rays at first visit of all children.Contrast examination was performed in eight cases.Upper gastrointestinal obstruction was diagnosed in three cases whereas small colon was seen in three cases.PIPO was not considered as the primary diagnosis in eight cases,two were initially diagnosed with megacystis-microcolon-intestinal hypoperistalsis syndrome(MMIHS).Four cases were combined with extra-intestinal disease.Whole exome sequencing was performed in four patients.ACTG2 gene mutation and EP300 gene mutation was identified in one case each.The other 2 cases revealed no significant finding.All patients underwent surgical treatment,one underwent cystostomy,nine underwent enterostomy and intestinal tissue biopsy,and no clear organic intestinal lesions were found during the operation.The postoperative pathological results showed hypoganglionosis in seven cases,and normal intestinal ganglion cells in two cases.Ten cases were followed up for an average of 36.9 months(1.5-82.5 months).Two patients transitioning to comfort care died due to intestinal failure.Among the eight surviving children,six achieved full oral feeding,and two needed partial parenteral nutrition support.Six patients had normal nutritional status,one had moderate malnutrition and one had severe malnutrition.Conclusions Neonatal-onset PIPO is difficult to be distinguished from other ileus diseases.Intestinal histological examination,contrast examination and whole exome sequencing are helpful for early identification of PIPO.
维普
万方数据