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目的 总结肝豆状核变性患者肝脏临床及病理形态学特征,提高对该病的诊断水平.方法 回顾性分析我院2013年1月至2018年8月期间明确诊断肝豆状核变性并行肝脏活组织检查的病例21例,分析患者的肝脏病理形态学特点及临床特征.采用Fisher精确检验法分析肝穿刺及肝移植活组织检查中病理形态学的差异,分析病理模式与活组织检查类型及临床指标之间的关系.结果 21例肝豆状核变性患者中有10例行肝脏穿刺活组织检查,11例行肝移植切除病肝活组织检查;表现为单纯性脂肪肝模式4例(19.0％,4/21)、脂肪性肝炎样模式8例(38.1％,8/21)、炎症坏死不伴肝硬化模式4例(19.0％,4/21)、炎症坏死伴肝硬化模式5例(23.9％,5/21).肝脏内出现铜沉积12例(57.1％,12/21),且铜在肝脏内分布不均. 结论 肝豆状核变性肝脏形态学主要表现为4种模式,但缺乏特征性改变,应该结合患者的临床病史、实验室检查、基因检测结果及肝脏形态学改变进行综合判断.

Objective To improve the diagnostic quality of hepatolenticular degeneration by summarizing the clinicopathological features.Methods A retrospective analysis of 21 cases that were diagnosed as hepatolenticular degeneration with liver biopsy in our hospital from January 2013 to August 2018 was reviewed,and then their clinicopathologic features were analyzed.The pathomorphological differences between liver biopsy and liver biopsy after transplantation,and the relationship between histopathological patterns and biopsy types and clinical indicators were analyzed by Fisher's exact test.Results Of the 21 patients with hepatolenticular degeneration,10 patients had liver biopsy,and 11 patients underwent liver biopsy after liver transplantation.Among them,four cases were presented as simple fatty liver pattern (19.0％,4/21),eight cases as steatohepatitis pattern (38.1％,8/21),four cases as inflammatory necrosis without cirrhosis pattern (19.0％,4/21),and five cases as inflammatory necrosis with cirrhosis pattern (23.9％,5/21).Twelve cases had copper deposition in the liver (57.1％,12/21),and the pattern of copper distribution in the liver was uneven.Conclusion A clinicalpathological features of hepatolenticular degeneration mainly manifests in four patterns,but lack characteristic changes.Hence,comprehensive judgment should rely on clinical history,laboratory examination,genetic test results and liver histopathological changes.