I型糖原贮积病合并肝细胞癌一例并国外文献复习  

Glycogen storage disease type I complicated with hepatocellular carcinoma： a case report and literature review

作　　者：班宗文[1] 黄晓明[2] 邱正庆[3] 曾学军[2] 鲁重美[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院消化内科,北京100073 [2]中国医学科学院北京协和医学院北京协和医院普通内科,北京100073 [3]中国医学科学院北京协和医学院北京协和医院儿科,北京100073

出　　处：《中华全科医师杂志》2009年第11期799-801,共3页Chinese Journal of General Practitioners

摘　　要：目的总结分析I型糖原贮积病合并肝细胞癌的临床表现和肿瘤特点，提高对该疾病的认识。方法报告国内首例Ia型糖原贮积病合并肝细胞癌病例，结合国外文献报道的14例病例，进行临床资料总结。结果本例患者19岁，男性，体检发现肝占位就诊。结合文献报道14例，总共15例患者中，肝细胞癌诊断平均年龄32.3岁（3例肝炎标记物阳性患者平均23.3岁），从确诊I型糖原贮积病到发现肝细胞癌的时间平均为23.1年（3例肝炎标记物阳性患者平均14.6年）；ALT、AST轻度升高；约半数病例甲胎蛋白升高。肿瘤在各叶均可发生，肝右叶最多（8／15）；多以单个肿瘤为主要表现，大小不一。结论I型糖原贮积病合并肝细胞癌起病隐匿，AFP诊断价值有限，应警惕I型糖原贮积病患者发生肝细胞癌的可能，争取早期诊断。Objective To summarize and analyze clinical characteristics of glycogen storage disease （GSD） type I complicated with hepatocellular carcinoma to improve clinical recognition to it. Methods First case of GSD type Ia complicated with hepatocellular carcinoma （HCC） in China was reported and another 14 cases with detailed clinical data reported in literatures were reviewed in this paper. Results The case was man at age of 19 with chief complaint of hepatic mass founded casually. For all the 15 cases （ other 14 from literature reports） , mean age at diagnosis of HCC was 32.3 years and average time interval from diagnosis of GSD to diagnosis of HCC was 23.1 years, as compared to 23.3 years and 14.6 years, respectively in three cases with both hepatitis B virus （HBV） and hepatitis C virus （HCV） seropositive. Serum level of alpha fetoprotein （AFP） was elevated in six patients. Tumor could be located at all lobes of the liver and mainly in the right lobe （eight of 15 cases ）, with varied size and solitary or multiple tumor. Conclusions Symptoms in GSD type I complicated with HCC was latent at onset, and AFP measurement was questionable in its diagnosis. It is important that physicians should keep more alert to risk of HCC in patients with GSD for its early diagnosis.

关 键 词：糖原贮积病I型 癌 肝细胞 诊断 

分 类 号：R735.7[医药卫生—肿瘤] R589[医药卫生—临床医学]