Assiri Asaad, Saeed Anjum, Alnimri Abdulrehman, Ahmad Sarfaraz, Saeed Elshazalay, Jameel Sajjad
Department of Pediatrics, Faculty of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.
Paediatr Int Child Health. 2013 May;33(2):108-10. doi: 10.1179/2046905513Y.0000000055.
Five children with glucose-galactose malabsorption (GGM) are presented. Two infants from Saudi Arabia were first-degree relatives, the third infant was unrelated and the other two were of Yemeni and Syrian origin, respectively. All the infants had chronic diarrhoea and four had failed to thrive since early infancy. All had stools positive for reducing substances, and sugar chromatography showed glucose and galactose malabsorption. Small bowel biopsies were normal in all. One infant developed gangrene of both legs as a complication of hypernatraemia and dehydration, necessitating bilateral amputation. Two infants had nephrolithiasis. All the infants responded well to fructose-based formulae. GGM should be considered in the differential diagnosis of chronic diarrhoea in infants breastfed or artificially fed from early life.
本文报告了5例葡萄糖-半乳糖吸收不良（GGM）患儿。两名来自沙特阿拉伯的婴儿是一级亲属，第三名婴儿无亲属关系，另外两名分别来自也门和叙利亚。所有婴儿均有慢性腹泻，4例自婴儿早期起生长发育迟缓。所有患儿粪便还原物质检测均为阳性，糖色谱分析显示葡萄糖和半乳糖吸收不良。所有患儿小肠活检均正常。一名婴儿因高钠血症和脱水并发症出现双腿坏疽，需行双侧截肢。两名婴儿患有肾结石。所有婴儿对以果糖为基础的配方奶反应良好。对于自幼母乳喂养或人工喂养的婴儿出现慢性腹泻的鉴别诊断，应考虑GGM。
