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Microvillous atrophy: atypical presentations.微绒毛萎缩：非典型表现。
J Pediatr Gastroenterol Nutr. 2014 Dec;59(6):779-85. doi: 10.1097/MPG.0000000000000526.
2
Recent progress in congenital diarrheal disorders.先天性腹泻疾病的最新进展
Curr Gastroenterol Rep. 2011 Jun;13(3):257-64. doi: 10.1007/s11894-011-0188-6.
3
Microvillous inclusion disease: how to improve the prognosis of a severe congenital enterocyte disorder.微绒毛包涵体病：如何改善严重先天性肠细胞紊乱的预后。
J Pediatr Gastroenterol Nutr. 2011 Apr;52(4):460-5. doi: 10.1097/MPG.0b013e3181fb4559.
4
Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.先天性腹泻性疾病：对基因缺陷认识的提高正推动肠道生理学和临床管理的进步。
J Pediatr Gastroenterol Nutr. 2010 Apr;50(4):360-6. doi: 10.1097/MPG.0b013e3181d135ef.
5
Is intestinal transplantation the future of children with definitive intestinal insufficiency?肠道移植是终末期肠道功能不全患儿的未来希望吗？
Eur J Pediatr Surg. 2008 Dec;18(6):368-71. doi: 10.1055/s-2008-1038928. Epub 2008 Nov 20.
6
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.肌球蛋白Ⅴb（MYO5B）突变导致微绒毛包涵体病并破坏上皮细胞极性。
Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24.
7
Microvillous inclusion disease (microvillous atrophy).微绒毛包涵体病（微绒毛萎缩）
Orphanet J Rare Dis. 2006 Jun 26;1:22. doi: 10.1186/1750-1172-1-22.
8
Neonatal enteropathies: defining the causes of protracted diarrhea of infancy.新生儿肠道疾病：确定婴儿慢性腹泻的病因
J Pediatr Gastroenterol Nutr. 2004 Jan;38(1):16-26. doi: 10.1097/00005176-200401000-00007.
9
Treatment of microvillus inclusion disease by intestinal transplantation.肠道移植治疗微绒毛包涵体病
J Pediatr Gastroenterol Nutr. 2000 Aug;31(2):176-80. doi: 10.1097/00005176-200008000-00016.
10
Siblings with microvillous inclusion disease.患有微绒毛包涵体病的兄弟姐妹。
Arch Dis Child. 1994 Jul;71(1):71-3. doi: 10.1136/adc.71.1.71.

一例新生儿迁延性腹泻：诊断难题

A case of Protracted Diarrhea in a Newborn: a Diagnostic Challenge.

作者信息

Mendes Catarina, Figueiredo Catarina, Mansilha Helena, Proença Elisa, Oliveira Dulce, Lima Rosa, Carvalho Carmen

机构信息

Division of Pediatrics, Centro Hospitalar do Porto, Portugal.

Division of Neonatology, Centro Hospitalar do Porto, Portugal.

出版信息

Pediatr Rep. 2014 Dec 11;6(3):5596. doi: 10.4081/pr.2014.5596. eCollection 2014 Aug 12.

DOI:10.4081/pr.2014.5596
PMID:25635218
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4292062/
Abstract

Congenital diarrhea comprises a broad range of pathologies and often requires a thorough workup and immediate treatment. Although rare, microvillous inclusion disease (MVID) should be included in differential diagnosis of this presentation in the neonate. We report the case of a 36-week newborn who developed signs of severe dehydration and lethargy, requiring fluid resuscitation and total parenteral nutrition. MVID was diagnosed by recognition of profuse secretory diarrhea after an exhaustive etiological investigation, confirmed by DNA analysis.

摘要

先天性腹泻包含多种病理情况，通常需要进行全面检查并立即治疗。尽管罕见，但微绒毛包涵体病（MVID）应纳入新生儿此类表现的鉴别诊断中。我们报告一例36周新生儿病例，该患儿出现严重脱水和嗜睡症状，需要进行液体复苏和全胃肠外营养。在进行详尽的病因学调查后，通过识别大量分泌性腹泻诊断为MVID，并经DNA分析得以证实。