摘要
目的探讨糖原累积病(glycogen storage disease,GSD)的临床及肝脏病理特点。方法回顾性分析2010年1月至2019年11月在解放军总医院第五医学中心住院治疗的97例经肝穿刺病理诊断为GSD患者的临床及病理资料。结果97例GSD患者均存在不同程度的肝大和肝功能异常,伴不同程度的低血糖73例(72.3%),其中3例(3.1%)出现低血糖惊厥,低体重24例(24.7%),生长迟缓11例(11.3%),消瘦8例(8.2%)。肝脏病理组织光镜下主要改变:肝细胞弥漫性肿胀,部分胞质空化、核小居中,肝细胞呈植物细胞样,纤维隔形成。肝脏病理PAS染色均为阳性。炎症程度G017例(17.5%),G174例(76.3%),G26例(6.2%),纤维化程度S122例(22.7%),S231例(32%),S326例(26.8%),S418例(18.5%),多发性肝腺瘤2例(2.1%),肝癌1例(1.0%)。结论GSD以儿童发病为主,多数有肝大、转氨酶异常,肝组织病理检查为确诊GSD主要手段,肝脏病理糖原染色阳性为其特异性病理特征,但分型依赖于基因检测。
Objective To investigate the clinical and pathological features of glycogen storage disease(GSD).Methods The clinical and pathological data of 97 patients with GSD diagnosed by liver biopsy were analyzed retrospectively.Results There were 75 male patients(77.3%)and 22 female patients(22.7%)enrolled with average of(4.68±5.973)-years old.Ninety-seven GSD patients had different degrees of hepatomegaly and liver dysfunction.Seventy three cases(72.3%)had different degrees of hypoglycemia.Among them,3 cases(3.1%)had hypoglycemia convulsion,24 cases(24.7%)had low body weight,11 cases(11.3%)had growth retardation and 8 cases(8.2%)were emaciated.Under the light microscope,the main changes of liver pathological tissue are as follows:diffuse swelling of hepatocytes,some cytoplasmic cavitation,small nucleus in the middle,plant cell like hepatocytes,a few focal necrosis;a small amount of mixed inflammatory cell infiltration,perisinusoidal fibrosis;expansion of the portal area,a small amount of inflammatory cell infiltration,formation of microfibril septum,no clear interfacial inflammation.PAS staining of liver was positive.Seventeen cases(17.5%)had inflammation,74(76.3%)of G1,6(6.2%)of G2,22(22.7%)of fibrosis,31(32%)of S2,26(26.8%)of S3,18(18.5%)of S4,2(2.1%)had multiple adenomas,and 1(1.0%)had liver cancer.Conclusion GSD mainly occurs in children,most of them have abnormal liver,transaminase and hypoglycemia.Liver biopsy is the main method to diagnose GSD,and positive glycogen staining is the specific pathological feature of GSD,but classification depends on gene detection.
作者
王丽苹
何婷婷
崔延飞
王仲霞
景婧
王立福
朱云
孙永强
许文涛
余思邈
桑秀秀
田淼
王睿林
WANG Li-ping;HETing-ting;CUI Yan-fei;WANG Zhong-xia;JING Jing;WANG Li-fu;ZHU Yun;SUN Yong-qiang;XU Wentao;YU Si-miao;SANG Xiu-xiu;TIAN Miao;WANG Rui-lin(Traditional Chinese Medicine,the fifth medical center of PLA General Hospital Department,Beijing100039,China;Department of Integrated Chinese and Western medicine,the fifth medical center of PLA General Hospital,Beijing100039,China;The First Affiliated Hospital of Henan University of Traditional Chinese Medicine,Zhengzhou450000,China)
出处
《肝脏》
2020年第12期1326-1329,共4页
Chinese Hepatology
基金
国家自然科学基金资助项目(81673806)
保健专项科研课题(17BJZ53)
关键词
糖原累积病
临床特点
病理
Glycogen accumulation disease
clinical feature
Pathology
作者简介
通信作者:王睿林,Email:wlp302@163.com
