Levin B, Abraham J M, Burgess E A, Wallis P G
Arch Dis Child. 1970 Apr;45(240):173-7. doi: 10.1136/adc.45.240.173.
A breastfed female infant is described who developed from the third day of life a severe watery diarrhoea, with weight loss. This ceased when lactose was omitted from the feeds and returned when it was resumed. Intolerance to this carbohydrate was confirmed by a lactose tolerance test which showed inability to hydrolyse the disaccharide. Absorption of glucose and sucrose was normal. No other cause for the diarrhoea was established. Congenital lactose malabsorption (alactasia) was confirmed by examination of the duodenal mucosa. The lactase activity was virtually absent, and the maltase, isomaltase, and sucrase activities were normal. The differential diagnosis of the congenital and acquired forms is discussed, and the importance of intestinal mucosal enzyme assays for final confirmation of the diagnosis is stressed.
本文描述了一名母乳喂养的女婴，她从出生第三天起出现严重水样腹泻，并伴有体重减轻。当喂养中去除乳糖时，腹泻停止，而重新添加乳糖后腹泻又复发。乳糖耐量试验证实了对这种碳水化合物的不耐受，该试验显示无法水解双糖。葡萄糖和蔗糖的吸收正常。未发现腹泻的其他病因。通过十二指肠黏膜检查确诊为先天性乳糖吸收不良（无乳糖酶症）。乳糖酶活性几乎完全缺乏，而麦芽糖酶、异麦芽糖酶和蔗糖酶活性正常。文中讨论了先天性和后天性乳糖吸收不良的鉴别诊断，并强调了肠道黏膜酶测定对最终确诊的重要性。
