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《传染病信息》[ISSN:1007-8134/CN:11-3886/R]

期数:

2019年02期

页码:

127-131

栏目:

论 著

出版日期:

2019-05-15

文章信息/Info

Title:

Comparative study of pathological characteristics of 45 patients with primary and secondary hemochromatosis

文章编号:

1007-8134(2019)02-0127-05

作者:

赵新颜; 何志颖; 刘立伟; 黄　坚; 孙丽莹; 欧晓娟; 贾继东

100050，首都医科大学附属北京友谊医院肝病中心（赵新颜、何志颖、刘立伟、欧晓娟、贾继东），肝移植中心（孙丽莹），国家消化系统疾病临床医学研究中心（赵新颜、何志颖、刘立伟、黄坚、欧晓娟、贾继东）

Author(s):

ZHAO Xin-yan;  HE Zhi-ying;  LIU Li-wei;  HUANG Jian;  SUN Li-ying;  OU Xiao-juan;  JIA Ji-dong*

Liver Research Center, Beijing Friendship Hospital, Capital Medical University; National Clinical Research Center for Digestive Disease, 100050, China

关键词:

原发性血色病; 继发性血色病; 血色病基因检测; 肝脏病理; 腹部核磁铁定量

Keywords:

primary hemochromatosis;  secondary hemochromatosis;  genetic test of hemochromatosis;  liver pathology;  abdominal MRI iron quantification

分类号:

R55；R596

DOI:

10.3969/j.issn.1007-8134.2019.02.007

文献标识码:

A

摘要:

目的　通过比较原发性血色病与继发性血色病的临床、肝脏病理特点及基因检测结果，阐述两者的关键鉴别点， 提高临床医师对本病的认识。方法　回顾分析2009 年1 月—2018 年12 月在首都医科大学附属北京友谊医院住院的铁过载 患者，收集患者临床、生化、病理、腹部MRI 及基因检测结果并进行分析。结果　符合铁过载诊断标准血色病患者45 例， 原发性血色病19 例（42.2%），继发性血色病26 例（58.8%），总体平均年龄53.0（38.5 ～ 60.3）岁，男性占75%。与继 发性血色病患者比较，原发性血色病患者ALT 显著升高（P ＜ 0.05），白细胞、血小板显著减少（P 均＜ 0.05），血清铁、 铁蛋白及转铁蛋白饱和度均显著性升高（P 均＜ 0.05）。且原发性血色病患者腹部MRI 显示其更易发生铁沉积（P ＜ 0.05）。 从肝脏病理角度分析，原发性血色病患者更容易出现胆管上皮内铁沉积（P ＜ 0.05），围绕毛细胆管周围也更容易出现铁 沉积，但差异无统计学意义。本组患者以非经典型（非 HFE）基因突变为主。结论　本研究通过对比诊断明确的原发性血色 病及继发性血色病病例，发现前者肝脏受损的程度、白细胞、血小板降低程度更为显著，且铁过载程度显著高于后者。本 组血色病患者以非经典型（非 HFE）基因突变为主，值得进一步系统研究。

Abstract:

Objective　To compare the clinical, liver pathological characteristics and genetic detection results between primary hemochromatosis and secondary hemochromatosis, explore the key differential points between the 2 groups and further enhance the clinician’s understanding of this disease. Methods　A retrospective analysis was performed among patients with iron overload who were hospitalized in Beijing Friendship Hospital from January 2009 to December 2018. Their clinical, biochemical, pathological, abdominal magnetic resonance images and genetic detection were collected and analyzed. Results　Forty-five hemochromatosis patients who were qualified in accordance with diagnosis criteria of iron overload were enrolled in this study. There were 19 cases (42.2%) with primary hemochromatosis and 26 cases (58.8%) with secondary hemochromatosis. The average age of the involved patients was 53.0 (38.5, 60.3) years. Male was predominant (75%). As compared to secondary hemochromatosis patients, primary hemochromatosis patients had a significantly increasing level of ALT (P ＜ 0.05), significantly decreasing counts of white blood cells and platelets (P ＜ 0.05), and significantly increasing levels of serum iron, ferritin and transferrin saturation (P ＜ 0.05). Abdominal MRI results revealed more frequently caught iron deposition signals from patients with primary hemochromatosis than that of secondary hemochromatosis(P ＜ 0.05). For liver pathological assessment, primary hemochromatosis patients were more prone to bile epithelium iron deposition (P ＜ 0.05) and pericanalicular iron deposition. In this study, non-classical HFE gene mutations were predominant in patients with primary hemochromatosis. Conclusions　By comparison of primary hemochromatosis cases and secondary hemochromatosis cases, the former has obvious liver lesions and decreasing counts of leucocytes and platelets, as well as significantly higher degree of iron overload. Non-classical HEF gene mutations are more frequently detected in hemochromatosis patients, which deserves further study.

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备注/Memo

备注/Memo:

[ 基金项目]　北京市医院管理局消化内科学科协同发展中心专项 经费资助（XXZ0301）
[ 通信作者]　贾继东，E-mail: jia_md@ccmu.edu.cn
*Corresponding author, E-mail: jia_md@ccmu.edu.cn

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更新日期/Last Update: 2019-05-15