儿童遗传代谢性肝病的超微病理学观察

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....

Ultrastructural observation of childhood genetic metabolic liver diseases

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.