Prieto Bozano G, Miralles Adárraga T, Carrasco Gandía S, Lama Moré R, Codoceo Alquinta R, Polanco Allué I
Unidad de Gastroenterología y Nutrición, Hospital Infantil La Paz, Universidad Autónoma, Madrid.
An Esp Pediatr. 1990 Apr;32(4):317-20.
In the last twenty years we have diagnosed 9 cases of congenital sucrase-isomaltase deficiency. In all the cases the diagnosis was made before 9 months of age and was confirmed by quantitative determination of sucrase-isomaltase activity in jejunal mucosal homogenates. Malnutrition and dehydration were frequent findings. In 3 cases there was clinical intolerance to dextrinomaltose and to glucose polymers. In the 6 cases in which were performed, abnormal breath H2 test after an oral sucrose load was found. Lactase activity was above the mean in all cases and an important decrease of maltase activity was demonstrated. The enzymatic deficiency persisted even though the clinical tolerance to sucrase improved with age.
在过去二十年里，我们诊断出9例先天性蔗糖酶-异麦芽糖酶缺乏症。所有病例均在9个月龄前确诊，并通过空肠黏膜匀浆中蔗糖酶-异麦芽糖酶活性的定量测定得以证实。营养不良和脱水是常见的表现。3例对异麦芽糖糊精和葡萄糖聚合物存在临床不耐受。在进行检测的6例中，口服蔗糖负荷后呼气氢试验异常。所有病例中乳糖酶活性均高于平均水平，且麦芽糖酶活性有显著下降。尽管随着年龄增长对蔗糖的临床耐受性有所改善，但酶缺乏仍然存在。
