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A literature review and case report of severe hepatitis caused by the G6PD gene c.1478G>A muta-tion

Published on Aug. 25, 2021Total Views: 3551 timesTotal Downloads: 3308 timesDownloadMobile

Author: Jian LIU Yan-Jun WANG Shun-Jun XIONG Bing-Yan HE You-Ping DENG Dong-Chi ZHAO

Affiliation: Department of Pediatrics, Zhongnan Hospital of Wuhan University, Wuhan 430071, China

Keywords: Glucose-6-phosphate dehydrogenase deficiency G6PD gene Severe hepatitis

DOI: 10.12173/j.issn.1004-5511.202012073

Reference: Liu J, Wang YJ, Xiong SJ, He BY, Deng YP, Zhao DC. A literature review and case report of severe hepatitis caused by the G6PD gene c.1478G>A mutation[J]. Yixue Xinzhi Zazhi, 2021, 31(4): 307-310. DOI: 10.12173/j.issn.1004-5511.202012073.[Article in Chinese]

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Abstract

G6PD (glucose-6-phosphate dehydrogenase) deficiency is the most common enzyme deficiency disease in humans affecting over 500 million people worldwide, with most patients being children aged 2 to 10 years. G6PD deficiency usually has an acute onset and manifests as acute hemolytic anemia. Clinically, G6PD deficiency leads to acute hemolytic anemia and cases with severe hepatitis are relatively rare. This article reports a case of acute hemolytic anemia complicated by severe hepatitis, which made a rapid recovery after supportive symptomatic treatment. It analyzes the results of the child’s clinical data, auxiliary examinations and gene sequencing, and summarizes the clinical and genetic characteristics of acute hemolytic anemia complicated by severe hepatitis caused by G6PD deficiency. In addition, the genetic sequencing of this patient detected a new mutation site of the G6PD gene c.1478G>A (p.Arg493His), which expands the clinical genetic understanding of G6PD deficiency with severe liver damage.

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References

1.Luzzatto L, Ally M, Notaro R. Glucose-6-phosphate dehydrogenase deficiency[J]. Blood, 2020, 136(11): 1225-1240. DOI: 10.1182/blood.2019000944. 

2.Luzzatto L, Arese P. Favism and Glucose-6-phosphate dehydrogenase deficiency[J]. N Engl J Med, 2018, 378(1): 60-71. DOI: 10.1056/nejmra1708111. 

3.陶子馨, 朱安娜, 杨芳.葡萄糖-6-磷酸脱氢酶缺乏症研究进展[J].中国产前诊断杂志(电子版), 2019, 11(3): 49-53. DOI: 10.13470/j.cnki.cjpd.2019.03.011. [Tao ZX, Zhu AN, Yang F. Research progress in glucose-6-phosphate dehydrogenase deficiency[J]. Chinese Journal of Prenatal Diagnosis (Electronic Version), 2019, 11(3): 49-53.]

4.Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO Scientific Group[J]. World Health Organ Tech Rep Ser, 1967, 366: 1-53.

5.余超, 于洁, 宪莹, 等. 儿童G6PD缺乏症355例临床分析[J].中国小儿血液与肿瘤杂志, 2015, 20(3): 126-130. DOI: 10.3969/j.issn.1673-5323.2015.03.005. [Yu C, Yu J, Xian Y, et al. Clinical analysis in 355 childhood of G6PD deficiency[J]. Journal of China Pediatric Blood and Cancer, 2015, 20(3): 126-130.]

6.Hundsdoerfer P, Vetter B, Kulozik AE. Chronic haemolytic anaemia and glucose-6 phosphate dehydrogenase deficiency. Case report and review of the literature[J]. Acta Haematol, 2002, 108(2): 102-105. DOI: 10.1159/ 000064749. 

7.Singh B, Kaur P, Chan KH, et al. Severe rhabdomyolysis in Glucose-6-Phosphate dehydrogen-ase deficiency[J]. Am J Med Sci, 2020, 360(1): 72-74. DOI: 10.1016/j.amjms. 2020.03.018. 

8.Talwar M, Krishnamurthy S, Parameswaran N, et al. Severe acute kidney injury owing to rhab-domyolysis and intravascular haemolysis in an 11-year-old child with G6PD deficiency[J]. Pae-diatr Int Child Health, 2019, 39(2): 150-153. DOI: 10.1080/20469047.2018.1439804. 

9.Cunningham AD, Colavin A, Huang KC, et al. Coupling between protein stability and catalytic activity determines pathogenicity of G6PD variants[J]. Cell Rep, 2017, 18(11): 2592-2599. DOI: 10.1016/j.celrep.2017.02.048. 

10.He Y, Zhang Y, Chen X, et al. Glucose-6-phosphate dehydrogenase deficiency in the Han Chi-nese popula-tion: molecular characterization and genotype-phenotype association through-out an activity distribution[J]. Sci Rep, 2020, 10(1): 17106. DOI: 10.1038/s41598-020-74200-y. 

11.Liu Z, Yu C, Li Q, et al. Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017[J]. Hum Mutat, 2020, 41(1): 212-221. DOI: 10.1002/humu.23911.