国人肝糖原累积症的临床特点研究  

Clinical Characteristics Analysis of Chinese Glyeogen Storage Disease

作　　者：王彦丽[1] 崔巍[1] 刘沛[1] 

机构地区：[1]中国医科大学附属第一医院传染科,辽宁省沈阳市110001

出　　处：《中国全科医学》2012年第22期2531-2532,共2页Chinese General Practice

摘　　要：目的总结国人肝糖原累积症的临床特点,提高临床医生对该病的认识,减少误诊误治。方法文献检索中国期刊全文数据库、万方全文数据库、维普全文数据库,下载命中的全部文献,仔细阅读检索到的文献全文,剔除重复收录、重复发表、同一单位或个人的重复报道的文献,并根据肝穿刺活检选出确诊为肝糖原累积症且资料完整的病例共75例。结果 75例患者中,72.0%为男性,首次发病年龄为出生后15 h～65岁。主要首发症状为腹膨隆或肝脏增大(56.0%),其他首发症状还包括乏力、呼吸困难、腹泻、鼻出血、消化道出血、肝昏迷等。病程中出现的主要症状为生长发育迟缓(57.3%),低血糖症状(8.0%),肢体无力(6.7%)。大部分患者出现转氨酶升高及血糖低于正常,贫血11例,血尿酸升高5例,三酰甘油升高8例,胆固醇升高4例,乳酸增高2例。1例行肾上腺素激发试验为阳性。大部分患者超声示肝脏体积增大,形态饱满,肝内回声增强。肝脏结节2例,肝硬化2例,脾脏增大3例。结论作为肝肿大及肝功能异常原因的鉴别诊断,肝糖原累积症应当受到关注。当出现下列情况时,应高度警惕肝糖原累积症的可能:(1)肝肿大伴或不伴脾肿大;(2)生长发育迟缓;(3)生化检查示肝酶升高,血尿酸升高,三酰甘油、胆固醇升高,低血糖;(4)腹部超声可见肝脏弥漫性病变。肝穿刺活检是鉴别诊断的有力依据。Objective To summarize the clinical features of Chinese glyeogenstorage disease,in order to improve clinical physician′s cognition of the disease and reduce the misdiagnosis and mis-therapy.Methods An online search was undertaken of China Journal Full-Text Database（CJFD）,Wanfang Database,and VIP Full-Text Database.The clinical data of 75 eligible cases of Chinese glyeogen storage disease were analyzed retrospectively.Results About 72.0% of the 75 cases were male,the time of first attack was 15 hours after birth to 65 years old.The major initial symptoms were abdominal distension or hepatomegaly（56.0%）.Other initial symptoms included fatigue,dyspnea,diarrhea,nasal hemorrhage,gastrointestinal hemorrhage,and hepatic coma.The main symptoms during the disease progression were growth retardation（57.3%）,hypoglycemia（8.0%）,and limb weakness（6.7%）.Most patients had abnormality of liver function and hypoglycemia.there wer 11 cases of anemia,5 cases of hyperuricemia,8 cases of hypertriglyceridemia,4 cases of hypercholesterolemia,2 cases of hyperlactacidemia,and 1 case whose epinephrine stimulating test was positive.The abdominal ultrasonography of most patients showed a liver enlarged in volume,full in shape,and increased intra-hepatic echogenicity.There were 2 cases of hepatic nodular,2 cases of cirrhosis,and 3 cases of splenomegaly.Conclusion Glyeogen Storage Disease,considered as a differential diagnosis of hepatomegaly and abnormality of liver function,is paid more attention.The possibility of glyeogen storage disease should be paid highly attention as the following condition appears：hepatomegaly with or without splenomegaly;growth retardation;such abnormal biochemical tests as abnormality of liver function,hyperuricemia,hyperlipidaemia and hypoglycemia;and diffused liver enlargement in abdominal ultrasonography.The final diagnosis can depend on liver biopsy.

关 键 词：肝糖原累积症 临床特点 鉴别诊断 

分 类 号：R349.14[医药卫生—基础医学]