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SLC40A1基因突变致遗传性血色病1例报告
DOI: 10.3969/j.issn.1001-5256.2021.05.041
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：朱承谕负责收集数据、资料分析、撰写论文；封忠昕负责修改论文、拟定写作思路；陈琦指导撰写文章并最后定稿。
Hereditary hemochromatosis caused by mutation in the SLC40A1 gene: A case report
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Key words:
- Hereditary Hemochromatosis /
- Mutation /
- Therapeutics
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[1] POWELL LW, SECKINGTON RC, DEUGNIER Y. Haemochromatosis[J]. Lancet, 2016, 388(10045): 706-716. DOI: 10.1016/S0140-6736(15)01315-X. [2] XUN YH, SHI JP. Diagnosis and treatment of hereditary hemochromatosis[J]. Chin Clin Dr, 2016, 44(10): 1-4. DOI: 10.3969/j.issn.2095-8552.2016.10.001.荀运浩, 施军平. 遗传性血色病的诊断与治疗[J]. 中国临床医生杂志, 2016, 44(10): 1-4. DOI: 10.3969/j.issn.2095-8552.2016.10.001. [3] WANG YH, HOU LH. Research progress in expression and regulation mechanism of hepcidin[J]. Int J Blood Transfus Hematol, 2019, 42(4): 358-361. DOI: 10.3760/cma.j.issn.1673-419X.2019.04.013.王彦华, 侯丽虹. 铁调素表达与调节机制的研究进展[J]. 国际输血及血液学杂志, 2019, 42(4): 358-361. DOI: 10.3760/cma.j.issn.1673-419X.2019.04.013. [4] WANG XX, CUI HF. The development of new drug targeting hepcidin[J]. Chin Pharmacol J, 2018, 53(6): 405-410. DOI: 10.11669/cpj.2018.06.001.王晓雪, 崔慧斐. 以铁调素为靶点的新药研发[J]. 中国药学杂志, 2018, 53(6): 405-410. DOI: 10.11669/cpj.2018.06.001. [5] HAN Y, ZHANG XX. Genetic diagnosis of hereditary hemochromatosis[J]. J Clin Hepatol, 2019, 35(8): 1673-1679. DOI: 10.3969/j.issn.1001-5256.2019.08.004.韩悦, 张欣欣. 遗传性血色病的基因诊断[J]. 临床肝胆病杂志, 2019, 35(8): 1673-1679. DOI: 10.3969/j.issn.1001-5256.2019.08.004. [6] PIETRANGELO A. Ferroportin disease: Pathogenesis, diagnosis and treatment[J]. Haematologica, 2017, 102(12): 1972-1984. DOI: 10.3324/haematol.2017.170720. [7] ZOLLER H, KOCH RO, THEURL I, et al. Expression of the duodenal iron transporters divalent-metal transporter 1 and ferroportin 1 in iron deficiency and iron overload[J]. Gastroenterology, 2001, 120(6): 1412-1419. DOI: 10.1053/gast.2001.24033. [8] MAYR R, JANECKE AR, SCHRANZ M, et al. Ferroportin disease: A systematic meta-analysis of clinical and molecular findings[J]. J Hepatol, 2010, 53(5): 941-949. DOI: 10.1016/j.jhep.2010.05.016. [9] ZHANG W, LV T, HUANG J, et al. Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature[J]. Medicine (Baltimore), 2017, 96(38): e8064. DOI: 10.1097/MD.0000000000008064. [10] ALTAMURA S, KESSLER R, GR?NE HJ, et al. Resistance of ferroportin to hepcidin binding causes exocrine pancreatic failure and fatal iron overload[J]. Cell Metab, 2014, 20(2): 359-367. DOI: 10.1016/j.cmet.2014.07.007. [11] CHEN SR, YANG LQ, CHONG YT, et al. Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4[J]. Intern Med J, 2015, 45(6): 672-676. DOI: 10.1111/imj.12764. -
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