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

Shuduo WU; Yibo ZHAN; Xinhua LI; Changlei XU; Minling CAO; Xiaoling CHI

doi:10.3969/j.issn.1001-5256.2022.11.026

Volume 38 Issue 11

Nov. 2022

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Article Navigation > Journal of Clinical Hepatology > 2022 > 38(11): 2571-2574

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

DOI: 10.3969/j.issn.1001-5256.2022.11.026

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)
Received Date: 2022-04-22
Accepted Date: 2022-05-29
Published Date: 2022-11-20

Abstract

- Hemochromatosis,
- Iron Metabolism Disorders,
- Mutation,
- HJV gene

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References(9)

References

[1]	GOLFEYZ S, LEWIS S, WEISBERG IS. Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI[J]. Expert Rev Gastroenterol Hepatol, 2018, 12(8): 767-778. DOI: 10.1080/17474124.2018.1496016.
[2]	KOWDLEY KV, BROWN KE, AHN J, et al. ACG clinical guideline: Hereditary hemochromatosis[J]. Am J Gastroenterol, 2019, 114(8): 1202-1218. DOI: 10.14309/ajg.0000000000000315.
[3]	GUO RM, TANG WJ, ZHU YQ, et al. Diagnostic value of MRI IDEAL-IQ sequence to hepatic steatosis and hepatic iron-overloaded[J]. J SUN Yat-sen Univ(Med Sci), 2015, 36(5): 689-692. https://www.cnki.com.cn/Article/CJFDTOTAL-ZSYK201505008.htm 郭若汨, 唐文杰, 朱叶青, 等. 磁共振IDEAL-IQ序列对肝脏脂肪变性和铁过载的诊断价值[J]. 中山大学学报(医学科学版), 2015, 36(5): 689-692. https://www.cnki.com.cn/Article/CJFDTOTAL-ZSYK201505008.htm
[4]	WANG XL. CT and MRI manifestations of hemochromatosis[J]. J Imag Res Med Appl, 2019, 3(15): 57-58. https://www.cnki.com.cn/Article/CJFDTOTAL-YXYY201915030.htm 王秀兰. 血色病的CT及MRI表现[J]. 影像研究与医学应用, 2019, 3(15): 57-58. https://www.cnki.com.cn/Article/CJFDTOTAL-YXYY201915030.htm
[5]	MILMAN NT. Managing genetic hemochromatosis: An overview of dietary measures, which may reduce intestinal iron absorption in persons with iron overload[J]. Gastroenterology Res, 2021, 14(2): 66-80. DOI: 10.14740/gr1366.
[6]	LIMA TG, BENEVIDES F, ESMERALDO FILHO FL, et al. Treatment of iron overload syndrome: a general review[J]. Rev Assoc Med Bras (1992), 2019, 65(9): 1216-1222. DOI: 10.1590/1806-9282.65.9.1216.
[7]	NIEDERAU C, FISCHER R, SONNENBERG A, et al. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis[J]. N Engl J Med, 1985, 313(20): 1256-1262. DOI: 10.1056/NEJM198511143132004.
[8]	ADAMS P, ALTES A, BRISSOT P, et al. Therapeutic recommendations in HFE hemochromatosis for p. Cys282Tyr (C282Y/C282Y) homozygous genotype[J]. Hepatol Int, 2018, 12(2): 83-86. DOI: 10.1007/s12072-018-9855-0.
[9]	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. DOl: 10.3969/j. issn. 1001-5256.2019.08.004. DOI: 10.3969/j.issn.1001-5256.2019.08.004

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

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

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