Perino A, Cabras S, Obinu D, Cavalli Sforza L
Ospedale S. Luigi, Unversità degli Studi di Torino.
Eur Ann Allergy Clin Immunol. 2009 Feb;41(1):3-16.
Lactose malabsorption is a very common condition characterized by intestinal lactase deficiency. Primary lactose malabsorption is an inherited deficit present in the majority of the world's population, while secondary bypolactasia can be the consequence of an intestinal disease. The presence of malabsorbed lactose in the colonic lumen may cause gastrointestinal symptoms. This condition is known as lactose intolerance. Lactase non-persistence is the ancestral state, whilst two single nucleotide polymorphisms in the lactase gene have been associated with lactase persistence. These are C/T 13910 and G/A 22018 substitutions. Lactase persistence, this Mendelian dominant trait, only became advantageous after the invention of agriculture, when milk from domesticated animals became available for adults to drink. Lactase persistence is then strongly correlated with the diary history of the population. Diagnosis is assessed clinically by elimination of dietary lactose or, better, by non-invasive tests including hydrogen breath test and genetic test. In patients with lactase non-persistence, treatment should be considered exclusively if intolerance symptoms are present. In the absence of guidelines, the common therapeutic approach tends to exclude milk and dairy products from the diet. However, this strategy may have serious nutritional disadvantages. Several studies have been carried out to find alternative approaches, such as exogenous beta-galactosidase, yogurt and probiotics for their bacterial lactase activity, strategies that can prolong contact time between enzyme and substrate delaying gastrointestinal transit time, and chronic lactose ingestion to enhance colonic adaptation.
乳糖吸收不良是一种以肠道乳糖酶缺乏为特征的非常常见的病症。原发性乳糖吸收不良是一种遗传性缺陷,存在于世界上大多数人口中,而继发性乳糖酶缺乏可能是肠道疾病的结果。结肠腔内存在未被吸收的乳糖可能会引起胃肠道症状。这种情况被称为乳糖不耐受。乳糖酶非持续性是原始状态,而乳糖酶基因中的两个单核苷酸多态性与乳糖酶持续性有关。这些是C/T 13910和G/A 22018替换。乳糖酶持续性这种孟德尔显性性状,直到农业发明后才变得有利,那时家畜的奶可供成年人饮用。乳糖酶持续性与人群的乳制品历史密切相关。诊断通过临床排除饮食中的乳糖来评估,或者更好的是通过包括氢呼气试验和基因检测在内的非侵入性检测来评估。对于乳糖酶非持续性的患者,只有在出现不耐受症状时才应考虑治疗。在没有指南的情况下,常见的治疗方法往往是从饮食中排除牛奶和乳制品。然而,这种策略可能有严重的营养缺陷。已经进行了几项研究以寻找替代方法,例如外源性β-半乳糖苷酶、酸奶和具有细菌乳糖酶活性的益生菌,这些策略可以延长酶与底物之间接触时间、延迟胃肠通过时间,以及长期摄入乳糖以增强结肠适应性。