Lee W S, Tay C G, Nazrul N, Paed M, Chai P F
Department of Paediatrics, University of Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia.
Med J Malaysia. 2009 Mar;64(1):83-5.
A five-month-old Indian girl, product of consanguineous marriage, presented with diarrhoea with an onset within two days after birth, severe malnutrition and metabolic acidosis. The diarrhoea persisted even with lactose-free formula, amino acid-based formula and glucose-containing oral rehydration solution, but stopped when fasted. She required prolonged parenteral nutrition. Fructose and glucose tolerance tests were performed, confirming the child was able to absorb and metabolize fructose but not glucose, indicating a diagnosis of glucose-galactose malabsorption. This case illustrate how simple and pertinent clinical observations and laboratory investigations is sufficient to allow a firm diagnosis to be made.
一名五个月大的印度女孩，系近亲结婚所生，出生后两天内出现腹泻、严重营养不良和代谢性酸中毒。即使使用无乳糖配方奶粉、氨基酸配方奶粉和含葡萄糖的口服补液盐，腹泻仍持续存在，但禁食时腹泻停止。她需要长期肠外营养。进行了果糖和葡萄糖耐量试验，证实该患儿能够吸收和代谢果糖，但不能吸收和代谢葡萄糖，提示诊断为葡萄糖-半乳糖吸收不良。该病例说明简单而相关的临床观察和实验室检查足以做出明确诊断。
