HJV基因突变致多器官损伤的成人遗传性血色病1例报告

吴树铎; 詹沂博; 李新华; 许长磊; 曹敏玲; 池晓玲

doi:10.3969/j.issn.1001-5256.2022.11.026

HJV基因突变致多器官损伤的成人遗传性血色病1例报告

DOI: 10.3969/j.issn.1001-5256.2022.11.026

1.
广东省中医院肝病科，广州 510120
2.
广州中医药大学第二临床医学院，广州 510006
3.
中山大学附属第三医院感染性疾病科，广州 510630

基金项目:

2020年广东省研究生教育创新计划项目 (2020JGXM028)

伦理学声明：本例报告已获得患者知情同意。

利益冲突声明：所有作者均声明不存在利益冲突。

作者贡献声明：吴树铎、詹沂博参与起草文章关键内容；许长磊、曹敏玲负责收集总结患者资料；李新华、池晓玲参与文章架构及内容的修改，最终定稿。

详细信息

通信作者:
池晓玲，chixiaolingqh@163.com

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出版历程
- 收稿日期: 2022-04-22
- 录用日期: 2022-05-29
- 出版日期: 2022-11-20

Hereditary hemochromatosis with multiple organ damage caused by HJV gene mutation in adults: A case report

1.
Department of Liver Disease, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou 510120, China
2.
The Second Clinical College of Guangzhou University of Traditional Chinese Medicine, Guangzhou 510006, China
3.
Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, China

Research funding:

Postgraduate Education Innovation Project of Guangdong Province in 2020 (2020JGXM028)

More Information

Corresponding author: CHI Xiaoling, chixiaolingqh@163.com(ORCID: 0000-0003-3193-1943)

摘要

- 血色素沉着症 /
- 铁代谢障碍 /
- 突变 /
- HJV基因
- Hemochromatosis /
- Iron Metabolism Disorders /
- Mutation /
- HJV gene

HTML全文

图 1 垂体MR检查

注：a，冠状位；b，矢状位；箭头示T₁W_I垂体前叶实质呈明显低信号。

Figure 1. MR of pituitary gland

下载: 全尺寸图片幻灯片

图 2 腹部MR检查

注：a，T₁W_I；b，T₂W_I；箭头示肝实质T₁W_I、T₂W_I信号减低，呈“黑肝症”。

Figure 2. Abdominal MR

下载: 全尺寸图片幻灯片

图 3 肝组织活检病理(×600)

注：a，HE染色；b，普鲁士蓝铁染色；c，网状纤维染色。

Figure 3. Liver biopsy pathology (×600)

下载: 全尺寸图片幻灯片

图 4 患者HJV基因突变位点家系一代测序峰图

Figure 4. Sequencing peak map of the first generation of pedigrees with HJV gene mutation in patients

下载: 全尺寸图片幻灯片

表 1 治疗过程中铁代谢及肝功能指标的变化情况

Table 1. The changes of iron metabolism and liver function indexes during treatment

指标	静脉放血前	静脉放血(50 mL/3 d, 维持1个月)	静脉放血(500 mL/周, 维持2个月)	静脉放血(500 mL/周, 维持4个月)	静脉放血(500 mL/周, 维持5个月)
血清铁(μmol/L)	28.4	31.9	35.7	59.1	63.6
铁蛋白(ng/mL)	＞2 000.0	＞2 000.0	＞1 650.0	2 262.0	2 332.0
转铁蛋白饱和度	92.5%	96.7%	89.7%	80.0%	80.0%
血红蛋白(g/L)	125	119	159	118	135
ALT(U/L)	26	23	49	60	51
AST(U/L)	46	70	50	56	48

指标	静脉放血(500 mL/周, 维持6个月)	静脉放血(500 mL/周, 维持7个月)	静脉放血(500 mL/周, 维持8个月)	静脉放血(500 mL/周, 维持9个月)	静脉放血(500 mL/周, 维持10个月)
血清铁(μmol/L)	49.0	41.6	51.1	43.4	31.9
铁蛋白(ng/mL)	1 401.0	1 238.4	828.7	630.7	276.3
转铁蛋白饱和度	66.0%	95.0%	95.0%	95.0%	69.3%
血红蛋白(g/L)	119	125	146	130	124
ALT(U/L)	46	35	46	32	31
AST(U/L)	44	30	44	27	24

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参考文献(9)

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