目的探讨经肝穿刺活检诊断的Caroli病、卟啉病和淀粉样变等3种疾病的临床病理特点、诊断与鉴别诊断。方法收集4例经肝穿刺活检诊断的Caroli病、卟啉病和淀粉样变患者的临床资料,应用HE染色和免疫组化染色进行病理学观察,并复习相关文献。结果 2例诊断为Caroli病,患儿为姐弟,年龄7岁和3岁。镜下见肝细胞水肿,胆管和纤维组织增生,炎症细胞浸润。1例为卟啉病,患儿男性,8岁,镜下示肝细胞胞质内红染颗粒状物沉积。1例为淀粉样变,患者女性,70岁。镜下见肝窦内大量均匀淡红色无结构物,刚果红染色阳性。结论 Caroli病、卟啉病和原发性肝淀粉样变等3种少见疾病,临床表现和实验室检查无特异性,确诊必须结合肝穿刺组织病理检查。 Objective To investigate the clinicopathological characteristics, diagnosis and differential diagnosis of Caroli disease, porphyria disease and amyloidosis diagnosed by liver biopsy. Methods The clinical data of 4 patients with Caroli disease, porphyria disease and amyloidosis diagnosed by liver biopsy were collected. The pathological changes were observed by HE staining and immunohistochemistry, and the related literatures were reviewed. Results Two cases were diagnosed as Caroli’s disease. The children were siblings, aged 7 and 3 years old. Microscopic see liver cell edema, bile duct and fibrous tissue proliferation, inflammatory cell infiltration. 1 case of porphyria, children with male, 8 years old, microscopic examination of the liver cell cytoplasm within the red dye deposition. 1 case of amyloidosis, patient female, 70 years old. Microscope to see a large number of sinusoids within the uniform pink no structure, Congo red staining. Conclusion Caroli disease, porphyria and primary liver amyloidosis and other three rare diseases, clinical manifestations and laboratory tests without specificity, diagnosis must be combined with liver biopsy histopathology.