儿童肝糖原累积病的临床特点分析  

Clinical Analysis of 42 Cases of Pediatric Liver Glycogen Storage Disease

作　　者：杨天娇[1] 王晓红[1] 朱启镕[1] 

机构地区：[1]复旦大学附属儿科医院感染科,上海200032

出　　处：《中国临床医学》2007年第2期209-210,共2页Chinese Journal of Clinical Medicine

摘　　要：目的:分析儿童期肝糖原累积病的临床特点。方法:回顾分析1990年1月-2006年1月收治的42例以肝脏损害为主的肝糖原累积病患儿的临床资料。结果:42倒患儿就诊时年龄5个月～17．5岁,男性33例,女性9例,均有肝脏肿大,40例(95．2％)为中重度肿大;30例(71．4％)存在空腹低血糖,2例发生低血糖惊厥;14例(33．3％)生长发育落后;36例肝组织病理检查均显示明显糖原累积,23例(63．9％)肝组织存在纤维化。结论:肝糖原累积病是小儿常见代谢性疾病之一,临床表现差异较大,及早诊断、随访治疗及合理饮食指导可改善患儿预后。Objective：To analyze the clinical characteristic of pediatric glycogen storage disease. Methods：42 children who were diagnosed as liver glycogen storage disease during January 1990 January 2006 were retrospectively analyzed. Results： 42 children（male 33,9 female,age 0.5 - 17. 5yrs） showed hepatomegaly, liver size of 40 cases（95.2%） were moderate to severe enlargement. 30 case（71. 4%）had fasting hypoglycemia, hypoglycemic convulsions occurred only in two children. 14 cases （33.3%）showed growth retardation. Histology of 36 cases who experienced liver puncture all showed obvious glycogen storage in the liver, mild to moderate fibrosis existed in 23 cases （63.9%）. Conclusion：Glycogen storage disease is one of the common pediatric metabolic disease, there were obvious difference of clinical manifestation. Prompt diagnosis and treatment, rational dietary direction will improve prognosis of the disease.

关 键 词：糖原累积病 肝脏 儿童 

分 类 号：R725.8[医药卫生—儿科]