10例儿童肝糖原累积病临床及病理学分析

赵素贤; 刘世恒; 李文聪; 韩芳; 刘树红; 张庆山; 任伟光; 孔令波; 付娜; 王荣琦; 孔丽; 南月敏; 赵景民

doi:10.3969/j.issn.1001-5256.2022.08.022

10例儿童肝糖原累积病临床及病理学分析

DOI: 10.3969/j.issn.1001-5256.2022.08.022

赵素贤¹,
刘世恒¹,
李文聪¹,
韩芳¹,
刘树红²,
张庆山¹,
任伟光¹,
孔令波¹,
付娜¹,
王荣琦¹,
孔丽¹,
南月敏^1, , ,,
赵景民^2, , ,

1.
河北医科大学第三医院中西医结合肝病科，河北省肝纤维化机制研究重点实验，石家庄 050051
2.
解放军总医院第五医学中心病理科，北京 100039

基金项目:

河北省医学适用技术跟踪项目 (gz2021005);

河北省重点研发计划项目民生科技专项 (19277779D)

伦理学审查：本研究方案于2019年12月25日经由河北医科大学第三医院伦理委员会审批，批号：K2019-014-2。所纳入患者均由其监护人签署知情同意书。

利益冲突声明：本研究不存在研究者、伦理委员会成员、受试者监护人以及与公开研究成果有关的利益冲突，特此声明。

作者贡献声明：赵素贤、刘世恒负责收集数据，撰写论文；李文聪、韩芳负责资料分析；张庆山、任伟光、孔令波参与临床病例收集；付娜、王荣琦、孔丽进行文献检索及分析；赵素贤、刘树红参与病理解读并提供病理图片；赵景民参与课题设计；南月敏参与课题设计，拟定写作思路，指导撰写文章并最后定稿。

详细信息

通信作者:
南月敏，nanyuemin@163.com

赵景民，jmzhao302@163.com

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出版历程
- 收稿日期: 2022-03-28
- 录用日期: 2022-05-18
- 出版日期: 2022-08-20

Clinical and pathological features of children with glycogen storage disease: An analysis of 10 cases

1.
Hebei Key Laboratory of Mechanism of Liver Fibrosis in Chronic Liver Disease, Department of Traditional and Western Medical Hepatology, Third Hospital of Hebei Medical University, Shijiazhuang 050051, China
2.
Department of Pathology, The Fifth Medical Center of Chinese PLA General Hospital, Beijing 100039, China

Research funding:

Hebei Medical Applicable Technology Tracking Project (gz2021005);

Key Research and Development Program of Hebei Province (19277779D)

More Information

Corresponding author: NAN Yuemin, nanyuemin@163.com(ORCID: 0000-0003-4192-099X); ZHAO Jingmin, jmzhao302@163.com(ORCID: 0000-0003-4345-2149)

摘要

摘要: 目的探讨儿童糖原累积病(GSD)的临床及病理学特点。方法选择2002年1月—2022年1月河北医科大学第三医院及解放军第五医学中心经病史、肝脏生化及肝活组织检查确诊的GSD 10例，对比分析人群特征、临床表现、生化指标、肝组织病理学特点。结果 10例患儿发育迟缓，矮小，均表现为肝功能异常，轻度乏力、纳差、尿黄、眼黄，4例患者肝脾肿大。6例患者有低血糖的临床表现；1例患儿双侧腓肠肌肥大，Gower征阳性。2例患儿巨细胞病毒IgG阳性。肝组织病理学表现肝细胞弥漫性肿大，胞浆空淡，核小居中似植物细胞状，伴或不伴纤维组织增生。结论 GSD患者多数有发育迟缓、转氨酶异常，肝组织病理检查有其特异性病理特征。
- 糖原贮积病 /
- 肝疾病 /
- 病理状态, 体征和症状 /
- 儿童
Abstract: Objective To investigate the clinical and pathological features of children with glycogen storage disease (GSD). Methods A retrospective analysis was performed for ten children with GSD who were admitted to the Third Hospital of Hebei Medical University and The Fifth Medical Center of Chinese PLA General Hospital from January 2002 to January 2022, based on medical history, liver biochemistry, and liver biopsy, and population characteristics, clinical manifestations, biochemical parameters, and liver histopathological characteristics were compared and analyzed. Results All ten children had developmental retardation and a short stature, with the manifestations of abnormal liver function, mild weakness, poor appetite, yellow urine, and yellow eyes, and four children had hepatosplenomegaly. Among the ten children, six had the clinical manifestations of hypoglycemia, and one had bilateral gastrocnemius hypertrophy and positive Gower sign. Two children had positive CMV IgG. Liver histopathological manifestations included diffuse enlargement of hepatocytes, light cytoplasm, and small nucleus in the middle like plant cells, with or without fibrous tissue proliferation. Conclusion Most patients with GSD have developmental retardation and abnormal aminotransferases, and liver pathological examination shows specific pathological features.
- Glycogen Storage Disease /
- Liver Diseases /
- Pathological Conditions, Signs and Symptoms /
- Child

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图 1 HE染色结果(×200)

Figure 1. HE staining(×200)

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图 2 PAS染色结果(×200)

Figure 2. Periodic Acid-Shiff's staining(×200)

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表 1 10例GSD患儿临床资料

Table 1. Clinical data of ten children with glycogen storage disease

病例	性别	年龄(岁)	起病原因	最终诊断	CK(U/L) CK-MB(U/L) LDH(U/L)	ALT (U/L)	AST (U/L)	TG (mmol/L)	GLU (mmol/L)	神经症状	B超	其他及病毒学	病理纤维化分级
1	男	9	因股骨头坏死行手术, 术前肝功能异常	GSD	LDH 280	83	158	-	3.37	-	肝肿大	GGT阳性	S1
2	男	2	因查体发现转氨酶升高	GSD Ⅱ型	CK 974	212	285	-	4.43	双侧腓肠肌肥大, 肌力4级Gower阳性	肝回声密集	-	S1
3	男	3	转氨酶升高待查, 进行性肌营养不良	GSD	CK 5479, CK-MB 183	174	116	2.51	6.42	-	肝回声密集脾肿大	KET 5 mmol/L	S0~1
4	男	3	转氨酶升高待查	GSD	LDH 371	467	493	4.19	3.27	-	-	-	S3
5	男	5	转氨酶升高待查	GSD Ⅰ型	LDH 328	188	135	-	2.98	-	肝肿大	肾上腺素激发实验阳性	S2
6	男	2.8	无诱因腹部膨隆	GSD Ⅰ型	-	138	188	-	3	-	肝肿大	KET 1.5 mmol/L	S2~3
7	男	3	因乏力纳差2年, 肝脾肿大, 肝功能异常，转氨酶升高, 肝脾肿大原因待查	GSD	LDH 696，CK 246，CK-MB 34	627	1500	-	3.6	-	肝肿大	CMV IgG阳性GGT阳性KET 5mmol/L	S2
8	女	3	肝肿大原因待查	GSD	LDH 547	452	842	2.88	4.2	-	肝肿大	KET 5 mmol/L	S2
9	女	2	转氨酶升高待查, 无诱因眼尿黄诊为肝炎综合征	GSD	LDH 249	33	41	1.37	5.2	-	-	-	S1~2
10	女	5	肝肿大原因待查, 自身免疫性肝病，因腹部肿大4年	GSD	CK 419, CK-MB 29, LDH 240	355	459	1.41	1.17	-	肝肿大	KET 5 mmol/L CMV IgG阳性	S3
注：ALT正常值9 ~50 U/L；AST正常值15~ 50 U/L；GLU常值3.9~6.1 mmol/L；空腹血酮(KET)正常值0~0.3 mmol/L；TG正常值0~1.7 mmol/L；肌酸激酶(CK)正常值50~310 U/L；肌酸激酶同工酶(CK-MB)正常值3~20 U/L；LDH正常值120~250 U/L；“-”代表未知。

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