每日一题_2025.03.22

A full-term baby boy was transferred to the neonatal intensive care unit (NICU) at 30 hours of age owing to abdominal distention and failure to pass meconium. Before the transfer, the baby had fed poorly and regurgitated colostrum. A nasogastric tube had drained yellow fluid. An abdominal radiograph had shown dilated loops of small intestine. At the NICU, a bedside abdominal ultrasonogram showed possible reversal of the superior mesenteric vessels, and an urgent laparotomy was performed. Considerable distention of the small bowel by thick meconium was identified. Which of the following is the most likely underlying cause of this patient’s symptoms?

一名足月男婴因腹胀和未排出胎粪，在出生后30小时被转入新生儿重症监护病房（NICU）。在转院之前，该婴儿进食不佳，并且反流初乳。鼻胃管引流出了黄色液体。腹部X光显示小肠肠袢扩张。在NICU，床旁腹部超声检查显示可能存在肠系膜上血管反位，并进行了紧急剖腹探查术。术中发现小肠被厚厚的胎粪显著扩张。以下哪项是最可能的潜在病因？

A. Congenital chloride diarrhea先天性氯化物腹泻

B. Cystic fibrosis囊性纤维化

C. Hirschsprung’s disease先天性巨结肠

D. Hypothyroidism甲状腺功能减退

E. Intestinal atresia肠闭锁

答案解析：

术后进行基因检测发现，该婴儿的囊性纤维化跨膜传导调节蛋白（CFTR）基因存在纯合突变。最终诊断为因囊性纤维化引起的胎粪性肠梗阻。胎粪性肠梗阻是由于胎粪堆积导致的小肠梗阻。

正确答案：B