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Metabolic iron disorder after liver transplant: Hereditary hemochromatosis in a pediatric recipient of a pediatric donor with unknown HFE C282Y homozygous mutation.
Clinics and Research in Hepatology and Gastroenterology ( IF 2.7 ) Pub Date : 2020-05-14 , DOI: 10.1016/j.clinre.2020.04.009 Laurent Monino 1 , Raymond Reding 2 , Mina Komuta 3 , Géraldine Dahlqvist 4
中文翻译:
肝移植后的代谢性铁紊乱:HFE C282Y 纯合突变未知的儿科供体的儿科受体的遗传性血色素沉着症。
更新日期:2020-05-14
Clinics and Research in Hepatology and Gastroenterology ( IF 2.7 ) Pub Date : 2020-05-14 , DOI: 10.1016/j.clinre.2020.04.009 Laurent Monino 1 , Raymond Reding 2 , Mina Komuta 3 , Géraldine Dahlqvist 4
Affiliation
We report a case of an iron overload syndrome twenty years after a liver transplantation in a patient without feature for secondary iron overload. The diagnosis of hemochromatosis with homozygous mutationC282Y in the graft was made possible with liver biopsy, using real-time PCR technique with Light-Cycler 480. Our case suggests that in case of iron overload syndrome after liver transplantation we can perform a liver biopsy with real-time PCR technique that allows us to search for the mutation of the HFE.
中文翻译:
肝移植后的代谢性铁紊乱:HFE C282Y 纯合突变未知的儿科供体的儿科受体的遗传性血色素沉着症。
我们报告了一例无继发性铁过载特征的患者在肝移植 20 年后出现铁过载综合征。使用Light-Cycler 480的实时PCR技术进行肝活检,诊断移植物中纯合突变C282Y的血色病成为可能。我们的病例表明,如果肝移植后出现铁过载综合征,我们可以进行肝活检-time PCR 技术,使我们能够搜索 HFE 的突变。