先天性钠性腹泻:产前诊断可预防新生儿不必要的手术。

IF 0.8 Q4 PEDIATRICS
AJP Reports Pub Date : 2023-11-06 eCollection Date: 2023-07-01 DOI:10.1055/s-0043-1776148
Dana S Berger, Virginia Tancioco, Vineet K Shrivastava
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引用次数: 0

摘要

先天性钠性腹泻(CSD)是一种罕见的危及生命的疾病,其特征是顽固性腹泻、低钠血症和代谢性酸中毒。它与其他先天性疾病表现相似,因此经常被误诊和虐待。我们报告了一例CSD,在18周时出现肠环扩张和羊水过多,被认为是先天性肠梗阻。因此,患者在出生后通过手术进行了回肠造口术,但后来发现其粪便钠水平升高,代谢紊乱与CSD一致。我们的病例表明,需要对先天性腹泻疾病进行高度怀疑,以防止对这种罕见疾病进行不必要的手术和延迟适当的医疗管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Congenital Sodium Diarrhea: Antenatal Diagnosis May Prevent Unnecessary Surgery in the Neonate.

Congenital sodium diarrhea (CSD) is a rare, life-threatening condition characterized by intractable diarrhea, hyponatremia, and metabolic acidosis. It presents similarly to other congenital disorders and, therefore, is often misdiagnosed and mistreated. We present a case of CSD that presented with dilated loops of bowel and polyhydramnios at 18 weeks and was thought to be a congenital bowel obstruction. The patient was therefore managed surgically after birth with a diverting ileostomy, however was later found to have elevated stool sodium levels and metabolic derangements consistent with CSD. Our case demonstrates the need for high index of suspicion for congenital diarrheal disorders to prevent unnecessary surgery and a delay in appropriate medical management of this rare condition.

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来源期刊
AJP Reports
AJP Reports PEDIATRICS-
CiteScore
2.20
自引率
0.00%
发文量
30
审稿时长
12 weeks
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