双糖酶缺乏症是指小肠黏膜刷状缘双糖酶(乳糖酶、蔗糖酶、麦芽糖酶、异麦芽糖酶及海藻糖酶)缺乏,导致未吸收的双糖被结肠内细菌分解代谢,产生CO_2、H_2及其他气体和有机酸,临床上出现腹胀、腹痛、腹泻、肠鸣和排气过多等症状。双糖酶缺乏与人类营养和健康的关系密切,并日益引起人们的重视,本文就其流行病学、分子学和遗传学、临床特点、诊断和治疗等方面进行综述。 Disaccharidase deficiency refers to a deficiency of the intestinal mucosal brush border disaccharidase (lactase, sucrase, maltase, isomaltase, and trehalase) resulting in unabsorbed disaccharides being catabolized by colon bacteria producing CO 2 , H 2 and other gases and organic acids, clinically bloating, abdominal pain, diarrhea, bowel and excessive exhaust and other symptoms. The lack of disaccharidase is closely related to human nutrition and health and attracts more and more people’s attention. This article reviews its epidemiology, molecular and genetics, clinical features, diagnosis and treatment.