Abstract: Chronic diarrhea in children is a common digestive system disease with many types，and the clinical symptoms are complex. The symptoms of various chronic diarrhea diseases often overlap，so it is difficult to diagnose. Gene detection is an effective method for making diagnosis. In recent years，the progress of molecular diagnosis technology，especially the wide application of second generation gene sequencing （NGS） technology，has reduced the cost and time of gene detection. Therefore，selecting the appropriate gene diagnosis strategies and interpreting the reports are very important for clinicians.

Key words: chronic diarrhea, gene, congenital chronic diarrhea

摘要： 儿童慢性腹泻是临床常见的消化系统疾病，其疾病种类繁多，临床症状复杂，且各种慢性腹泻疾病之间症状常重叠，故临床病因诊断困难，基因检测是明确诊断的有效手段。近年来，分子诊断技术的不断进步，尤其是二代基因测序（NGS）技术的广泛应用，使基因检测成本降低、时间缩短，因此，基因诊断策略选择及报告解读对临床医师十分重要。

关键词: 慢性腹泻, 基因, 先天性慢性腹泻