34例肝糖原累积病的临床病理观察  

The clinical and pathological manifestations of 34 cases hepatic glycogen storage disease

作　　者：刘琳[1] 管小琴[1] 王立娟[1] 赵瑞秋[2] 许红梅[2] 廖晓岗[3] 

机构地区：[1]重庆医科大学基础医学院病理教研室,重庆400016 [2]重庆医科大学附属儿童医院感染消化科,重庆400014 [3]重庆医科大学基础医学院电镜室,重庆400016

出　　处：《重庆医科大学学报》2010年第4期605-607,共3页Journal of Chongqing Medical University

摘　　要：目的:分析肝糖原累积病的临床病理表现,以提高对该病的认识。方法:34例确诊为肝糖原累积病患儿的临床资料,用光镜及电镜观察其肝活检组织的病理形态。结果:肝糖原累积病患儿临床主要表现为肝大,生长发育滞后,部分有低血糖表现;实验室检查可见低血糖,高乳酸血症,肝功能异常;肝穿刺活检光镜观察见肝细胞肿胀,呈植物细胞样镶嵌状排列;胞质内有大量红色粉尘样物,过碘酸希夫染色(Periodicacid-schiff,PAS)阳性证实其为糖原;电镜示肝细胞胞质内大量糖原沉积及大小不等脂滴形成。结论:肝糖原累积病发病隐匿,对临床不明原因的生长发育迟缓、肝脏肿大、有低血糖及酸中毒表现的患儿应疑诊本病。肝穿刺活检PAS染色及电镜观察对本病的确诊有重要意义。Objective：To investigate the clinical features,pathological changes of 34 cases that had suffered infantile hepatic glycogen storage disease in order to improve the recognition.Methods：The clinical manifestations of 34 cases of infantile hepatic glycogen storage disease during May 2005 to May 2009 were collected.The hepatic tissues from liver biopsy were observed under microscope and electron microscope.Results：Hepatomegaly and growth retardation were the main clinical manifestations of hepatic glycogen storage disease, partial cases were complicated with the manifestations of hypoglycemia.Hypoglycemia,hyperlactacidemia and abnormality of liver function were detected.And the pathology features were observed under microscope and electron microscope.Conclusion：The clinical manifestations of infantile hepatic glycogen storage disease were common,and the final diagnosis can depende on liver biopsy.

关 键 词：糖原累积病 肝脏 婴幼儿 

分 类 号：R365[医药卫生—病理学]