97例糖原累积病的临床及病理特点分析

肝脏 ›› 2020, Vol. 25 ›› Issue (12): 1326-1329.

97例糖原累积病的临床及病理特点分析

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

100039 北京解放军总医院第五医学中心中医科(王丽苹,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),中西医结合科(何婷婷);河南中医药大学第一附属医院脾胃肝胆科(崔延飞)

收稿日期:2020-08-07 出版日期:2020-12-31 发布日期:2021-02-26
通讯作者: 王睿林,Email:wlp302@163.com
基金资助:
国家自然科学基金资助项目(81673806);保健专项科研课题(17BJZ53)

Analysis of clinical and pathological features of 97 cases of glycogen accumulation disease

WANG Li-ping¹, HE Ting-ting², CUI Yan-fei³, WANG Zhong-xia¹, JING Jing¹, WANG Li-fu¹, ZHU Yun¹, SUN Yong-qiang¹, XU Wen-tao¹, YU Si-miao¹, SANG Xiu-xiu¹, TIAN Miao¹, WANG Rui-lin¹

1. Traditional Chinese Medicine,the fifth medical center of PLA General Hospital Department, Beijing 100039, China;
2. Department of Integrated Chinese and Western medicine, the fifth medical center of PLA General Hospital, Beijing 100039, China;
3. The First Affiliated Hospital of Henan University of Traditional Chinese Medicine, Zhengzhou 450000, China

Received:2020-08-07 Online:2020-12-31 Published:2021-02-26
Contact: WANG Rui-lin,Email:wlp302@163.com

摘要/Abstract

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 G0 17例(17.5%), G1 74例(76.3%),G2 6例(6.2%),纤维化程度S1 22例(22.7%),S2 31例(32%),S3 26例(26.8%),S4 18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。

关键词: 糖原累积病, 临床特点, 病理

Abstract: 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.

Key words: Glycogen accumulation disease, clinical feature, Pathology

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. 97例糖原累积病的临床及病理特点分析[J]. 肝脏, 2020, 25(12): 1326-1329.

WANG Li-ping, HE Ting-ting, CUI Yan-fei, WANG Zhong-xia, JING Jing, WANG Li-fu, ZHU Yun, SUN Yong-qiang, XU Wen-tao, YU Si-miao, SANG Xiu-xiu, TIAN Miao, WANG Rui-lin. Analysis of clinical and pathological features of 97 cases of glycogen accumulation disease[J]. Chinese Hepatolgy, 2020, 25(12): 1326-1329.

参考文献

[1] Sucky FJ,Sokol RJ,Balistreri WF.Liver disease in children.2nd ed.Philadelphia:Lippincott Williams＆Wilkins,2001:565-594.
[2] 顾学范,江载芳,申昆玲,等褚福堂实用儿科学.8版.北京:人民卫生出版社,2015:2263.
[3] Oldfors A,Dimauro S. New insights in the field of muscle glycogenoses.Curr Opin Neurol,2013,26:544-553.
[4] 胡亚美,江载芳,主编.诸福棠.实用儿科学.第7版.北京:人民卫生出版社,2002:2125-2132.
[5] 张婷,朱启镕,68例小儿肝穿刺临床总结.中国临床医学,2001,8:570-572.
[6] 张鸿飞,杨晓晋,朱世殊.1020例小儿肝穿刺组织病理学与临床的研究.中华儿科杂志,2002,40:131-134.
[7] 陈小宁,牛焕红,晏伟,等.14例糖原累积病临床、病理特征及治疗.发育医学电子杂志,2014,2:224-227.
[8] 曾召琼,易帆,谢小兵,糖原累积病研究进展.检验医学与临床,2018,15:3458-3461.
[9] 黄巧燕,伊文霞,符娜,等.以意识障或惊厥为首发症状的儿童低血糖症临床特点和误诊分析.中国医刊,2013,48:22-24.
[10] 王小军,张改秀,宋文惠,等.难治性小儿低血糖症20例临床分析.中国药物与临床,2018,18:944-946.
[11] 刘强,郑敏,糖原累积症患儿的临床特点分析中国优生与遗传杂志,2013,21:122-123.
[12] Mason HH,Anderson DH.Glycogen disease of the liver(von Gierke's disease)with hepatomata:case report with metabolic studies.Pediatrics,1955,16:785-800.
[13] 唐晓艳,陈萌,马明圣,等.82例糖原累积症Ⅰa型肝脏受累特点.协和医学杂志,2014,5:405-407.
[14] Kishnani PS,Chuang TP,Bali D,et al.Chromosomal and genetic alterations in human hepatocellular adenomas associatde with typeⅠa glycogen storage disease.Hum Mol Genet,2009,18:4781-4190.
[15] Rajas F,Clar J,Cautierstein A,et al.Lessons fron new mouse models of glycogen storage disease type Ⅰa in relation to the time course and organ specificity of the disease.J Inherit Dis,2015,38:521.
[16] van Aalten SM,Witjes CD,de Man RA,et al.Can a decision-making model be justified in the management of hepatocellular adenoma.Liver Int,2012,32:28-37.
[17] 夏晓刚,王凡,陈嘉佳,等.手术治疗合并肝脏多发腺瘤的Ⅰa型糖原累积症1例.中华普通外科学文献(电子版),2018,12:128-129.
[18] 熊倩倩,漆学良,糖原累积病的诊断疗进展.中风与神经疾病杂志,2017,34:957-960.
[19] Moses S W,Parvari R.The variable presentation of glycogen storage disease type Ⅳ:a review of clinical.enzymatic and molecular Studies.Curr Mol Med,2002,2:177-188.
[20] 王丽晏,张鸿飞,董漪,等.糖原累积病Ⅳ型二例的临床与肝脏病理特点及文献复习.中国优生与遗传杂志,2012,20:131-135.