Canani Roberto Berni, Terrin Gianluca
Department of Pediatrics and European Laboratory for the Investigation on Food Induced Diseases, University of Naples Federico II, Via Pansini 5, 80131, Naples, Italy.
Curr Gastroenterol Rep. 2011 Jun;13(3):257-64. doi: 10.1007/s11894-011-0188-6.
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.
先天性腹泻疾病（CDD）是一组与特定基因缺陷相关的罕见肠病。患有这些疾病的婴儿会出现慢性腹泻，常常需要肠外营养支持。其病因和预后各不相同。我们提出了一种将CDD分为四类的新分类方法，该方法考虑了具体病因和基因缺陷：1）营养物质和电解质消化、吸收及转运缺陷；2）肠上皮细胞分化和极化障碍；3）肠内分泌细胞分化缺陷；4）肠道免疫反应失调。本综述着重介绍了在理解CDD病理生理学方面取得的最新进展，这些进展可能会改善对这些病症的临床处理方法。
