Posovszky C
Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Eythstr. 24, 89075 Ulm, Germany.
Best Pract Res Clin Gastroenterol. 2016 Apr;30(2):187-211. doi: 10.1016/j.bpg.2016.03.004. Epub 2016 Mar 11.
Congenital diarrhoeal disorders are a heterogeneous group of inherited malabsorptive or secretory diseases typically appearing in the first weeks of life, which may be triggered by the introduction of distinct nutrients. However, they may also be unrecognised for a while and triggered by exogenous factors later on. In principle, they can be clinically classified as osmotic, secretory or inflammatory diarrhoea. In recent years the disease-causing molecular defects of these congenital disorders have been identified. According to the underlying pathophysiology they can be classified into four main groups: 1) Defects of digestion, absorption and transport of nutrients or electrolytes 2) Defects of absorptive enterocyte differentiation or polarisation 3) Defects of the enteroendocrine cells 4) Defects of the immune system affecting the intestine. Here, we describe the clinical presentation of congenital intestinal diarrhoeal diseases, the diagnostic work-up and specific treatment aspects.
先天性腹泻疾病是一组异质性的遗传性吸收不良或分泌性疾病，通常在出生后的头几周出现，可能由特定营养素的引入引发。然而，它们也可能在一段时间内未被识别，随后由外源性因素引发。原则上，它们在临床上可分为渗透性、分泌性或炎症性腹泻。近年来，已确定了这些先天性疾病的致病分子缺陷。根据潜在的病理生理学，它们可分为四个主要组：1）营养素或电解质消化、吸收和运输缺陷；2）吸收性肠上皮细胞分化或极化缺陷；3）肠内分泌细胞缺陷；4）影响肠道的免疫系统缺陷。在此，我们描述先天性肠道腹泻疾病的临床表现、诊断检查和具体治疗方面。
