Abstract: Congenital diarrhea and enteropathies（CODEs） are typically monogenic disorders. Patients always present with persistent and severe chronic diarrhea. The diagnosis of CODEs is oftern delayed and there is a high mortality. Application of endoscopy，histologic evaluation and next generation sequencing might facilitate the diagnosis，and precision medicine to patients with CODEs.

Key words: congenital diarrhea and enteropathies, monogenic diseases, gene detection, precision medicine

摘要： 儿童先天性腹泻与肠病（congenital diarrhea and enteropathies，CODEs）多由单基因突变所致，患儿表现为持续、严重慢性腹泻。CODEs存在诊断延迟、病死率高的问题。结合内镜、组织学检查以及二代测序技术，可对CODEs进行确诊，并进一步开展精准治疗。

关键词: 先天性腹泻与肠病, 单基因疾病, 基因检测, 精准治疗