Terrin Gianluca, Tomaiuolo Rossella, Passariello Annalisa, Elce Ausilia, Amato Felice, Di Costanzo Margherita, Castaldo Giuseppe, Canani Roberto Berni
Department of Gynecology-Obstetrics and Perinatal Medicine, University of Rome "La Sapienza", Viale del Policlinico 1, Rome 00161, Italy.
CEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy.
Int J Mol Sci. 2012;13(4):4168-4185. doi: 10.3390/ijms13044168. Epub 2012 Mar 29.
Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.
先天性腹泻疾病（CDDs）是一组遗传性肠病，通常在生命早期发病。患有这些疾病的婴儿经常出现严重程度足以需要肠外营养的慢性腹泻。对于大多数先天性腹泻疾病，致病基因是已知的，分子分析可能有助于明确诊断。我们基于遗传缺陷对先天性腹泻疾病进行综述，重点关注分子分析在复杂的多步骤诊断检查中的重要作用。
