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[幽门闭锁:3例报告]

[Pyloric atresia: a report of 3 cases].

作者信息

Heinen Fernando L

机构信息

Servicio de Cirugía Pediátrica, Hospital Alemán.

出版信息

Arch Argent Pediatr. 2014 Oct;112(5):e227-30. doi: 10.5546/aap.2014.e227.

Abstract

Pyloric atresia is a rare malformation of the alimentary tract. Fetal gastric dilatation and polihydramnios are the main prenatal sonographic findings. In 20% of the cases epidermolysis bullosa is associated. This is a group of genetic anomalies affecting the skin and mucous membranes, which appear fragile and easily blistering. Therefore, this association should be investigated as soon as pyloric atresia is prenatally suspected. The "snow flake" sonographic sign in the amniotic fluid and some irregularities in the fetal's ears could be found and should motivate the investigation of those gene mutations known to be related to epidermolysis bullosa, in order to accomplish an appropriate familial counseling. The parents would be carriers of certain mutation and 25% of the siblings will be affected. A newborn with pyloric atresia will soon exhibit non-bilious vomiting and distention of the upper abdomen. A huge gastric dilatation and a gasless intestine will be apparent in the abdominal plain x-ray. Pyloric atresia is a surgically resolvable malformation. We present herein three patients with this infrequent anomaly.

摘要

幽门闭锁是一种罕见的消化道畸形。胎儿胃扩张和羊水过多是主要的产前超声检查结果。20%的病例与大疱性表皮松解症相关。这是一组影响皮肤和黏膜的基因异常,表现为皮肤脆弱且容易起泡。因此,一旦产前怀疑有幽门闭锁,就应调查这种关联。羊水内的“雪花”超声征象以及胎儿耳部的一些异常情况可能会被发现,这应促使对已知与大疱性表皮松解症相关的基因突变进行调查,以便进行适当的家族咨询。父母可能是特定突变的携带者,25%的兄弟姐妹会受到影响。患有幽门闭锁的新生儿很快会出现非胆汁性呕吐和上腹部膨胀。腹部平片会显示巨大的胃扩张和无气肠管。幽门闭锁是一种可通过手术解决的畸形。我们在此介绍三例患有这种罕见异常的患者。

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