儿童遗传代谢性肝病的超微病理学观察

Ultrastructural observation of childhood genetic metabolic liver diseases

目的:观察儿童遗传代谢性肝病的肝组织超微病理学改变特征,结合临床资料探讨电镜检查在诊断该类疾病中的作用。方法:收集2016年7月-2020年10月以肝大、肝功能不良等为主要临床表现,临床怀疑为遗传代谢性肝病的72例肝穿刺活检标本,电镜观察肝组织的超微结构改变。结果:遗传代谢性肝病患儿均有不同程度的肝大、肝酶升高等表现。肝穿刺活检电镜下显示不同程度的肝细胞损害及各自相应的特征性超微病理改变。电镜观察提示肝糖原累积症53例,其中肝糖原累积症Ⅰ型49例,Ⅱ型(Pompe病)2例,Ⅳ型2例,肝-豆状核变性13例,尼曼-匹克病5例,黏多糖累积症1例。结论:电镜观察肝组织超微病理学改变对于儿童遗传代谢性肝病的诊断有重要帮助,可明显提高诊断率。

Objective: To observe the ultrastructural pathological changes of liver tissues in children with hereditary metabolic liver diseases, and to explore the role of electron microscopy in the diagnosis of such diseases combined with clinical data. Methods:From July 2016 to October 2020, 72 samples of liver biopsy were collected, with liver enlargement and liver dysfunction as the main clinical manifestations. The ultrastructural changes of liver tissue were observed under electron microscope. Results:Children with hereditary metabolic liver diseases have different degrees of liver enlargement and liver enzyme elevation. Under the electron microscope, liver biopsy specimens showed different degrees of liver cell damage and their corresponding characteristic ultrastructural pathological changes. We have examined 53 cases of glycogen storage diseases, including 49 cases of type Ⅰ, 2 cases of type Ⅱ(Pompe’s disease), 2 cases of type Ⅳ, 13 cases of hepatolenticular degeneration, 5 cases of Niemann-Pick disease and 1 case of mucopolysaccharidoses. Conclusion:The observation of ultrastructural pathological changes in liver tissues by electron microscopy is of great help in the diagnosis of genetic metabolic liver diseases in children, which can significantly improve the diagnosis rate.