There are many kinds of genetic metabolic diseases, the causes are complicated, and both children and adults can develop diseases. Its diagnosis counts on finding clues from clinical data, and making diagnosis based on family history, symptoms and signs, laboratory examination, pathological examination and gene analysis. This article reviews the proper method of handling liver biopsy, histopathological pattern and characteristics as well as pathological and clinical diagnosis reports of genetic metabolic liver disease.
遗传代谢性疾病种类繁多，病因复杂，儿童及成人均可发病。其诊断有赖于从临床中发现线索，并综合家族史、症状体征、实验室检查、病理学检查和基因分析等多项临床资料做出诊断。现对遗传代谢性肝病时肝脏活组织检查组织的正确处理、组织病理学表现模式及特征、以及病理和临床诊断思路进行总结。.
Keywords: Biopsy; Diagnosis; Heredity; Pathology.