14例糖原累积病临床、病理特征及治疗  

Clinical manifestation, pathological feature and treatment of 14 cases of glycogen storage disease

作　　者：陈小宁 牛焕红[2] 晏伟[3] 何娜[4] 成胜权[2] 

机构地区：[1]海南省屯昌县人民医院儿科,海南屯昌571600 [2]第四军医大学西京医院儿科 [3]第四军医大学病理科,西安710032 [4]海南省海口市妇幼保健院儿科,海口570203

出　　处：《发育医学电子杂志》2014年第4期224-227,共4页Journal of Developmental Medicine (Electronic Version)

摘　　要：目的回顾性分析14例糖原累积病（GSD）患儿的临床表现、病理特征、治疗情况及随访，提高对GSD的认识。方法对本院2008年至2014年间诊治的14例GSD患儿的临床特点、病理特征及治疗情况进行回顾性分析。结果14例儿童GSD均以肝脏肿大、肝功能异常为首发症状，部分病例存在低血糖、高脂血症。治疗及随访患儿5例，给予生玉米淀粉1.75～2.50 g/（kg·次），每天4次，3例血糖及血脂均正常，2例于半年内肝脏缩小至正常。结论对于不能用常见原因解释，以肝脏肿大、肝功能异常，伴低血糖、高脂血脂为主要临床表现的儿童，需考虑GSD的可能。生玉米淀粉是部分患儿长期有效的饮食治疗方法。ObjectiveTo retrospectively analyze clinical manifestation, pathological feature,follow-up and treatment of 14 cases of glycogen storage disease (GSD), in order to gain deep insight into the disease. Method Fourteen cases of children patients diagnosed with GSD in Xijing Hospital during the year of 2008 and 2014 were retrospectively analyzed in term of clinical and pathological characteristics, and treatment. Result The initial symptoms of 14 children patients with GSD were all hepatomegaly and hepatic dysfunction, some cases among them were concomitant with hypoglycemia and hyperlipidemia. 5 cases of children GSD were given treatment and follow-up. After treatment of raw corn starch [1.75-2.5 g/(kg·time), 4 times /day], the levels of blood glucose and blood lipid in 3 cases turned to normality, hepatomegaly in 2 cases turned to normality with in half a year.ConclusionIn terms of inexplicable hepatomegaly, hepatic dysfunction, hypoglycemia and hyperlipidemia in children cases, the possibility of GSD should be considered. Raw corn starch is an effective diet therapy for some Children cases.

关 键 词：糖原累积病 儿童 肝脏活检 

分 类 号：R725.8[医药卫生—儿科]