Kawakami E, Silvestrini W S, Machado N L, Wehba J, Fagundes Neto U
Arq Gastroenterol. 1982 Jan-Mar;19(1):38-43.
Congeneeital glucose-galactose malabsorption is a rare clinical entity transmitted by autossomic recessive gen. The defect is in the small intestinal active transport system which is shared by glucose and galactose. Diarrhea and failure to thrive from the first week of life are the prominent symptoms. We report two sibs from consaguineous parents with diarrhea and failure to thrive since they were born. Both children had glucose and galactose malabsorption but tolerated well formula containing fructose as the only source of carbohydrate. They showed flat blood glucose curves when tested with glucose and galactose loads but normal increments of the sugar blood levels with fructose load. The small intestinal biopsy performed in both patients revealed normal villous pattern. When put under a diet containing fructose as the only source of carbohydrate, both patients had their symptoms subsided and reassumed the normal pattern of growth.
先天性葡萄糖 - 半乳糖吸收不良是一种由常染色体隐性基因传递的罕见临床病症。缺陷在于小肠中葡萄糖和半乳糖共有的主动转运系统。自出生第一周起出现的腹泻和生长发育迟缓是突出症状。我们报告了一对来自近亲父母的同胞,自出生以来就有腹泻和生长发育迟缓。两个孩子都存在葡萄糖和半乳糖吸收不良,但能很好地耐受以果糖作为唯一碳水化合物来源的配方奶。当用葡萄糖和半乳糖负荷进行测试时,他们的血糖曲线平坦,但果糖负荷时血糖水平正常升高。对两名患者进行的小肠活检显示绒毛模式正常。当给予以果糖作为唯一碳水化合物来源的饮食时,两名患者的症状均缓解,并恢复了正常的生长模式。