8例血色病患者临床与基因突变特征分析  

Clinical feature of patients with hemochromatosis:An analysis of 8 cases

作　　者：高萍[1] 高学松[1] 张亦瑾[1] 孙磊 刘楠[1] 李洪杰[1] 刘亚平 高丽丽[1] 段雪飞[1] Gao Ping;Gao Xuesong;Zhang Yijin(Department of General Medicine,Ditan Hospital,Capital Medical University,Beijing 100015,China)

机构地区：[1]首都医科大学附属北京地坛医院综合科,北京市100015 [2]首都医科大学附属北京地坛医院病理科,北京市100015

出　　处：《实用肝脏病杂志》2024年第3期386-389,共4页Journal of Practical Hepatology

基　　金：北京市卫生健康委高层次公共卫生技术人才建设项目(编号:学科骨干-02-26)。

摘　　要：目的探讨血色病(HC)患者的临床特点,以提高临床诊治水平。方法2012年~2022年我院诊治的8例HC患者,对其临床特征、铁生化指标、腹部影像学、肝组织病理学和基因检测结果进行分析。结果8例患者均为男性,其中原发性血色病(HHC)3例,继发性血色病(SHC)5例;乏力、肝脾肿大和皮肤色素沉着为其常见的临床表现;5例进展至肝硬化,2例合并糖尿病,1例合并多发性关节炎;5例血清铁(ST)水平升高,8例均有不同程度转铁蛋白饱和度(TSAT)和血清铁蛋白(SF)水平升高;8例肝组织均显示铁过多沉积,腹部影像学均提示肝脏铁沉积表现;3例基因检测提示基因突变,支持HHC诊断;放血或驱铁治疗,1例病情好转,1例失访,1例死亡,5例SHC患者病情相对稳定。结论了解HC的临床特征,对原因不明的肝损害患者及时行肝组织和基因检测,可帮助诊断。Objective The purpose of this study was to summarize the clinical features of patients with hemochromatosis(HC).Methods Eight patients with HC were included in this retrospective study,and the patients were encountered in our hospital from 2012 to 2022.We presented the clinical symptoms,sign,iron biochemical tests,abdominal imaging,histopathology by liver biopsies and gene sequencing.Results All th eight patients were male,and three of them were diagnosed as hereditary hemochromatosis(HHC)and other five cases were with secondary hemochromatosis(SHC);fatigue,hepatosplenomegaly and skin pigmentation were common;out of the eight patients,the cirrhosis was found in five cases,diabetes in two and polyarthritis in one case;five patients had an elevated serum iron levels,all eight patients had an elevated transferrin saturation and serum ferritin levels;the liver biopsy and abdominal imaging showed excessive hepatic iron deposition in all the patients;three patients had gene mutation analysis supporting the diagnosis of HHC;the pricking blood therapy or deferrization therapy was the main management,and one patient had improved convalescence,one lost,one died and five had relatively stable diseases in our series.Conclusion The HC is a relatively uncommon entity in our country,and liver biopsies and gene sequencing might help make the diagnosis clear in patients with cryptogenic liver injuries.

关 键 词：血色病 临床特征 影像学 基因检测 诊断 

分 类 号：R596[医药卫生—内科学]