22例血色病铁过载患者临床与病理特点分析  

Clinical and hepaticpathological characteristics of iron overload in 22 patients with hemochromatosis

作　　者：张紫英 王泽瑞 袁梦琪 范兴 苏比努尔·衣拉木江 石磊 王福生 ZHANG Ziying;WANG Zerui;YUAN Mengqi;FAN Xing;Subinyer·Yilamujiang;SHI Lei;WANG Fusheng(The First Student Battalion,Medical School of Chinese PLA,Beijing 100853,China;National Clinical Research Center for Infectious Diseases,Senior Department of Infectious Diseases,the Fifth Medical Centre of PLA General Hospital,Beijing 100039,China)

机构地区：[1]解放军医学院学员一大队,北京100853 [2]解放军总医院第五医学中心感染病医学部国家感染性疾病临床研究中心,北京100039 [3]解放军总医院第五医学中心感染病医学部研究生院,北京100039 [4]新疆维吾尔自治区喀什地区第一人民医院新疆感染性疾病临床医学研究中心,844000

出　　处：《传染病信息》2023年第5期426-432,共7页Infectious Disease Information

基　　金：国家重点研发计划(2022YFA1105604);海南省院士创新平台科研项目(YSPTZX202216);解放军总医院国家感染性疾病临床医学研究中心项目(NCRC-ID202105,413FZT6);国家自然科学基金委员会创新研究群体项目(81721002)。

摘　　要：目的研究血色病患者铁过载的临床和肝脏病理特点,总结血色病的治疗方法,提高临床医生对于铁过载疾病的认识。方法回顾性分析2012年1月—2022年12月在解放军总医院第五医学中心诊断为血色病的住院患者的病历资料,总结其临床与肝脏病理特点。结果血色病患者中符合铁过载诊断标准的共22例,其中原发性血色病7例,继发性血色病15例。患者临床症状以乏力、腹胀、皮肤色素沉着等为主,最常见的合并症是贫血和肝硬化。患者的血清铁蛋白、血清铁、铁饱和度较正常值升高,原发性血色病患者的这些指标均高于继发性血色病。肝脏病理表现出明显的铁沉积和纤维化,炎症活动度为轻中度;影像学表现出肝脾增大和铁过载。治疗主要采取静脉放血和铁螯合药物治疗,对其余合并症均采取标准治疗,最终21例患者好转,1例治疗无效。结论铁过载造成肝脏的慢性炎症性损伤,可伴有肝硬化,经过消除病因等治疗后预后较好。Objective To study the clinical and hepatic pathological features of iron overload in patients with haemochromatosis,summarize the treatment of haemochromatosis,and improve clinicians’understanding of iron overload diseases.Methods The research included all patients admitted with a diagnosis of hemochromatosis at the Fifth Medical Centre of PLA General Hospital from January 2012 to December 2022,and the clinical data of patients were collected and retrospectively analyzed.Results A total of 22 cases of hemochromatosis patients who were diagnosed as iron overload,includes 7 cases with primary hemochromatosis(36.36%)and 15 cases with secondary hemochromatosis(63.64%).Clinical symptoms such as malaise,abdominal,and skin pigmentation were predominant in the patients,and the most common comorbidities were anemia and cirrhosis.The serum ferritin,serum iron,and iron saturation of patients were elevated compared to normal,and these indices were higher in primary hemochromatosis patients than in secondary hemochromatosis patients.In addition,liver pathology in the patients showed evident iron deposition and fibrosis,but inflammatory activity was mostly mild to moderate;imaging showed hepatosplenomegaly and iron overload.The patients’hemochromatosis and iron overload were treated mainly with phlebotomy and iron chelating drugs,and the comorbidities were treated with standard therapy,resulting in improvement in 21 patients and ineffective treatment in one case.Conclusions This study presents the characteristics that majority of patients who were with chronic hepatitis and/or cirrhosis have a favorable prognosis after therapy.The data offer clinic evidence for clinical diagnosis and etiological elimination therapy of hemochromatosis.

关 键 词：原发性血色病 继发性血色病 铁过载 肝硬化 临床特点 实验室指标 肝脏病理 去铁治疗 

分 类 号：R575.5[医药卫生—消化系统]