摘要：
Objective To study the clinical features of congenital glucose-galactose malabsorption (CGGM),and to improve the understanding of CGGM.Method Clinical manifestations and treatment process of one patient with CGGM in our hospital were retrospectively analyzed.From 1966 to 2016 May,Chinese medical database and PUBMED were searched using "Malabsorption syndrome","dehydration","hypernatremia "," diarrhea "," newborn "," carbohydrate metabolism ",and " glucose/galactose malabsorption" as key words.The clinical features of CGGM reported in literatures were summarized.Result The patient in our hospital was a full-term female infant naturally delivered.The onset of the disease was on the 9th day after birth,and the clinical manifestations included severe diarrhea,severe dehydration,hypernatremia,metabolic acidosis and malnutrition.After intravenous infusion and symptomatic treatment,dehydration,hypernatremia and metabolic acidosis were corrected.However,there was no improvement of diarrhea characterized with watery and acidic stools,and neither was weight gain.Glucose loading test was negative,and fructose loading test was positive.Diarrhea was improved markedly using diagnostic carbohydrate-free formula,so CGGM was diagnosed clinically.SLC5A1 homozygous IVS7-2 A ＞ G mutation was detected which confirmed the diagnosis of CGGM.With carbohydrate-free formula feeding,the body weight of the infant was increased.Followed up for 2 months now,her body length and body weight were at P25 and P22 on growth curve respectively,and no obvious neurological sequela was observed.Our literature review revealed 7 reports including 48 cases of CGGM children.Literature review showed that:most children with CGGM (79.2％) had the onset within 7 days of life;main clinical features included diarrhea (100％),dehydration (100％),and malnutrition (54.2％);22.9％ of patients with carbohydrate-free formula and 27.1％ with fructose matrix formula were fed well;no death was detected,77.1％ had normal weight gain,and 91.7％ had normal development of the nervous system.Conclusion CGGM is rare.The symptoms include severe watery and acidic stools with onset during neonatal period.CGGM is associated with severe complications such as hypertonic dehydration and hypernatremia.The diagnosis is established based upon typical clinical manifestations,sugar loading test and SLC5A1 gene detection.Carbohydrate-free formula feeding is effective.%目的 探讨先天性葡萄糖-半乳糖吸收不良(CGGM)患儿的临床特征,提高对CGGM的认识.方法 对广州市妇女儿童医疗中心诊治的1例CGGM患儿的临床表现及诊治过程进行回顾性分析.以“吸收不良”、“高渗性脱水”、“腹泻”、“新生儿”、“先天性葡萄糖半乳糖吸收不良”及“malabsorption syndrome”、“dehydration”、“hypernatremia”、“diarrhea”、“newborn"、“carbohydrate metabolism”、“glucose/galactose malabsorption”为关键词,对万方数据知识服务平台、中国期刊全文数据库及生物医学文献数据库(PubMed) 1966年至2016年5月收录的论文进行检索,总结CGGM患儿的临床特征.结果 本院收治患儿女,足月顺产,生后第9天发病,临床表现为严重腹泻、重度脱水、高钠血症、代谢性酸中毒、营养不良.经静脉补液等对症治疗后脱水、高钠血症、代谢性酸中毒被纠正,但以水样、酸性粪便为特征的腹泻无改善,体重增长差.葡萄糖激发试验阴性,果糖激发试验阳性,诊断性去碳水化合物奶喂养后腹泻明显好转,临床诊断CGGM.基因检测存在SLC5A1基因纯合IVS7-2A＞G突变,确诊CGGM.予去碳水化合物配方奶加果糖喂养,患儿体重增长满意,现随访2个月,身长、体重分别为正常同龄儿第25、22百分位,暂未出现明显神经系统后遗症.文献检索共收集7篇文献48例CGGM患儿,多为生后7d内发病(79.2％);主要临床特征为腹泻(100％)、脱水(100％)、营养不良(54.2％);去碳水化合物配方奶(22.9％)和果糖基质配方奶(27.1％)喂养疗效满意;无死亡,多数体重增长正常(77.1％)、神经系统发育正常(91.7％).结论 CGGM罕见,在新生儿期即可发病,主要表现为反复的严重水样腹泻、粪便呈酸性,易伴有重度高渗性脱水、高钠血症等并发症.CGGM可通过典型临床表现、糖激发试验及SLC5A1基因检测而明确诊断.去碳水化合物配方奶加果糖喂养疗效满意.
