Lentze M
Prof. em. Pediatrics, Zentrum für Kinderheilkunde, Bonn University, Germany.
Georgian Med News. 2014 May(230):46-53.
With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and/or electron microscopy and molecular identification of the responsible mutations. The treatment of these diseases is difficult and therefore the prognosis remains poor. Immunosupressive therapy, total parenteral nutrition and even intestinal or bone marrow transplantation are the only choice for treatment.
随着胃肠道疾病遗传起源知识的迅速增加，在儿童期就已显现的先天性疾病数量急剧上升。由于分子遗传学的广泛应用，这一数字还在稳步增长。为了快速、高效地获取这些罕见疾病的信息，美国国立医学图书馆的数据库（《人类孟德尔遗传在线》——OMIM）是一个非常有用的在线工具，通过它可以轻松找到所有这些疾病实体（http://www.ncbi.nlm.nih.gov/omim）。提供了详细的表格来查找大多数影响胃肠道的先天性遗传疾病。详细描述了各种伴有消化、水解、吸收和分泌障碍的先天性腹泻：乳糖不耐受、蔗糖不耐受、葡萄糖 - 半乳糖吸收不良、果糖吸收不良、海藻糖酶和肠激酶缺乏、先天性氯和钠腹泻、先天性低镁血症、原发性胆汁酸吸收不良、肠病性肢端皮炎和门克斯综合征。还详细描述了肠道结构异常的疾病，如微绒毛包涵体病、先天性簇绒性肠病和IPEX综合征。碳水化合物水解或吸收障碍的诊断可通过适当的糖激发试验后进行H2呼气试验来确定。治疗方法是从饮食中去除相关的糖类。先天性分泌性腹泻的诊断通过检测血液和粪便中的电解质来确定。补充高剂量的相关矿物质可改善临床症状。在肠病性肢端皮炎中，低血清锌水平以及典型的皮肤病变有助于诊断。高剂量口服天冬氨酸锌可治愈该病症状。肠道先天性结构病变的诊断可通过组织学和/或电子显微镜检查以及对相关突变的分子鉴定来确定。这些疾病的治疗困难，因此预后仍然很差。免疫抑制治疗、全胃肠外营养甚至肠道或骨髓移植是唯一的治疗选择。
