Gericke Birthe, Amiri Mahdi, Naim Hassan Y
Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany.
Mol Cell Pediatr. 2016 Dec;3(1):2. doi: 10.1186/s40348-016-0033-y. Epub 2016 Jan 26.
Osmotic diarrhea and abdominal pain in humans are oftentimes associated with carbohydrate malabsorption in the small intestine due to loss of function of microvillar disaccharidases. Disaccharidases are crucial for the digestion and the subsequent absorption of carbohydrates. This review focuses on sucrase-isomaltase as the most abundant intestinal disaccharidase and the primary or induced pathological conditions that affect its physiological function. Congenital defects are primary factors which directly influence the transport and function of sucrase-isomaltase in a healthy epithelium. Based on the mutation type and the pattern of inheritance, a mutation in the sucrase-isomaltase gene may exert a variety of symptoms ranging from mild to severe. However, structure and function of wild type sucrase-isomaltase can be also affected by secondary factors which influence its structure and function either specifically via certain inhibitors and therapeutic agents or generally as a part of intestinal pathogenesis, for example in the inflammatory responses. Diagnosis of sucrase-isomaltase deficiency and discriminating it from other gastrointestinal intolerances can be latent in the patients because of common symptoms observed in all of these cases.Here, we summarize the disorders that implicate the digestive function of sucrase-isomaltase as well as the diagnostic and therapeutic strategies utilized to restore normal intestinal function.
人类的渗透性腹泻和腹痛通常与小肠中碳水化合物吸收不良有关，这是由于微绒毛双糖酶功能丧失所致。双糖酶对于碳水化合物的消化及后续吸收至关重要。本综述聚焦于蔗糖酶 - 异麦芽糖酶，它是肠道中最丰富的双糖酶，以及影响其生理功能的原发性或继发性病理状况。先天性缺陷是直接影响健康上皮细胞中蔗糖酶 - 异麦芽糖酶转运和功能的主要因素。根据突变类型和遗传模式，蔗糖酶 - 异麦芽糖酶基因的突变可能引发从轻度到重度的各种症状。然而，野生型蔗糖酶 - 异麦芽糖酶的结构和功能也可能受到继发性因素的影响，这些因素要么通过某些抑制剂和治疗药物特异性地影响其结构和功能，要么作为肠道发病机制的一部分一般性地产生影响，例如在炎症反应中。由于所有这些病例都有常见症状，蔗糖酶 - 异麦芽糖酶缺乏症的诊断以及将其与其他胃肠道不耐受症区分开来在患者中可能较为隐匿。在此，我们总结了涉及蔗糖酶 - 异麦芽糖酶消化功能的疾病以及用于恢复正常肠道功能的诊断和治疗策略。
