Recent progress in congenital diarrheal disorders

被引：36

作者：

Canani R.B. ^{[1
]}

Terrin G. ^{[2
]}

机构：

[1] Department of Pediatrics, European Laboratory for the Investigation on Food Induced Diseases, University of Naples Federico II, 80131, Naples

[2] Department of Women Health and Perinatal Medicine, University of Rome La Sapienza, Rome

来源：

Current Gastroenterology Reports | 2011年 / 13卷 / 3期

关键词：

Congenital chloride-losing diarrhea; Congenital sodium diarrhea; Enteric anendocrinosis; Enteropathy; Immune dysregulation; Microvillous inclusion disease; Polyendocrinopathy; Tufting enteropathy; X-linked syndrome;

D O I：

10.1007/s11894-011-0188-6

中图分类号：

学科分类号：

摘要：

Congenital diarrheal disorders (CDD) are a group of rare enteropathies related to specific genetic defects. Infants with these disorders have chronic diarrhea, frequently requiring parenteral nutrition support. Etiologies and prognoses are variable. We propose a new classification of CDD into four groups, taking into account the specific etiology and genetic defect: 1) defects in digestion, absorption, and transport of nutrients and electrolytes; 2) disorders of enterocyte differentiation and polarization; 3) defects of enteroendocrine cell differentiation; and 4) dysregulation of the intestinal immune response. The present review focuses on the recent advances made in understanding the pathophysiology of CDD that could potentially improve the clinical approach to these conditions. © 2011 Springer Science+Business Media, LLC.

引用

页码：257 / 264

页数：7

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