Saarela T, Similä S, Koivisto M
Department of Pediatrics, University of Oulu, Finland.
J Pediatr. 1995 Dec;127(6):920-3. doi: 10.1016/s0022-3476(95)70028-5.
We describe 11 infants with congenital lactase deficiency, whose age at diagnosis varied from 6 to 88 days. At the time of admission, 7 of 10 infants had hypercalcemia. Five of the seven infants for whom renal ultrasonography was performed at the time of diagnosis had medullary nephrocalcinosis. Hypercalcemia ceased within a week of the start of a lactose-free diet. At the time of reevaluation, at the ages of 2 to 10 years, one of the patients still had hypercalciuria and nephrocalcinosis was still present in 3 of 11 patients. The mechanism of hypercalcemia is unclear but may be related to metabolic acidosis or may be promoted by the lactose effect (i.e., by nonhydrolyzed lactose that has a direct enhancing effect on calcium absorption in the ileum).
我们描述了11例先天性乳糖酶缺乏的婴儿，其诊断时的年龄从6天至88天不等。入院时，10例婴儿中有7例出现高钙血症。诊断时接受肾脏超声检查的7例婴儿中，有5例出现髓质肾钙质沉着症。无乳糖饮食开始后一周内高钙血症消失。在2至10岁重新评估时，1例患者仍有高钙尿症，11例患者中有3例仍存在肾钙质沉着症。高钙血症的机制尚不清楚，但可能与代谢性酸中毒有关，或者可能由乳糖效应（即未水解的乳糖对回肠钙吸收有直接增强作用）所促进。
