肝细胞中的铁沉积能否作为HFE基因突变的预后标志物？

Could iron deposits in hepatocytes serve as a prognostic marker of HFE gene mutations?

作者信息

Sikorska Katarzyna, Stalke Piotr, Jaskiewicz Kazimierz, Romanowski Tomasz, Bielawski Krzysztof Piotr

机构信息

Department of Infectious Diseases, Medical University of Gdansk, Gdansk, Poland.

出版信息

Hepatogastroenterology. 2008 May-Jun;55(84):1024-8.

PMID:18705322

Abstract

BACKGROUND/AIMS: The diagnosis of hereditary hemochromatosis (HH) is based on qualitative measurement of tissue iron concentration and genetic tests. The aim of this study was to evaluate the correlation between the presence of iron deposits in the liver and the HFE gene mutations in patients with chronic liver diseases (CLD).

METHODOLOGY

The 182 patients, age range 18-71 years, were hospitalized in Gdansk because of CLD. The C282Y, H63D and S65C HFE mutations were screened by PCR-RFLP analysis. Liver function tests, serological examinations for viral hepatitis, serum iron and ferritin concentration and semiquantitative assessment of liver iron were done in all subjects. Patients were divided into Group A without iron deposits in the liver, and Group B with deposits. The most frequent etiology of CLD was chronic hepatitis C.

RESULTS

Biochemical parameters indicating iron storage and ALT activity were significantly higher in Group B. Either typical for diagnosis HH homozygotes C282Y/C282Y and combined heterozygotes C282Y/H63D or carriers of other HFE gene mutations were found significantly more frequently in Group B.

CONCLUSIONS

The finding of iron deposits in routinely obtained liver specimen correlates with occurrence of the different HFE gene mutations.

摘要

背景/目的：遗传性血色素沉着症（HH）的诊断基于组织铁浓度的定性测量和基因检测。本研究的目的是评估慢性肝病（CLD）患者肝脏中铁沉积的存在与HFE基因突变之间的相关性。

方法

182例年龄在18至71岁之间的患者因CLD入住格但斯克医院。通过PCR-RFLP分析筛查C282Y、H63D和S65C HFE基因突变。对所有受试者进行肝功能检查、病毒性肝炎血清学检查、血清铁和铁蛋白浓度以及肝脏铁的半定量评估。患者分为A组（肝脏无铁沉积）和B组（有铁沉积）。CLD最常见的病因是丙型肝炎。