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首页> 外文期刊>World Journal of Gastroenterology >Fatty liver in H63D homozygotes with hyperferritinemia.
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Fatty liver in H63D homozygotes with hyperferritinemia.

机译：H63D纯合子伴高铁蛋白血症的脂肪肝。

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摘要

To study the clinical correlates of the H63D mutation we have analysed the phenotype of H63D homo-zygotes identified through mutation analysis in a referral laboratory. A total of 366 blood samples referred for HFE analysis were screened for C282Y and H63D mutations. Four H63D homozygotes were identified. All had raised serum ferritin but normal transferrin saturation. They were negative for hepatitis B and C and only one patient consumed excess alcohol. In all 4 cases ultrasonography revealed fatty liver. In two patients a liver biopsy was done and showed mild siderosis with an unusual distribution and macrovesicular steatosis. These data confirm the association between fatty liver, hyperferritinaemia and increased hepatic iron, but do not clarify whether siderosis was related to steatosis rather than homozygosity for the H63D mutation. Patients with fatty liver may complicate the interpretation of data in population studies of the expression of H63D homozygosity.
机译：为了研究H63D突变的临床相关性，我们分析了通过转诊实验室中的突变分析确定的H63D纯合子的表型。筛查了总共366份用于HFE分析的血液样本中的C282Y和H63D突变。鉴定出四个H63D纯合子。所有患者血清铁蛋白均升高，但转铁蛋白饱和度正常。他们的乙型和丙型肝炎均为阴性，只有一名患者饮酒过量。在所有4例中，超声检查均显示出脂肪肝。在两名患者中进行了肝活检，发现轻度铁锈病，分布不正常，大泡脂肪变性。这些数据证实了脂肪肝，高铁蛋白血症和肝铁增加之间的关联，但并未阐明铁蛋白变性是否与脂肪变性有关，而不是H63D突变的纯合性。脂肪肝患者可能会使H63D纯合子表达的人群研究中的数据解释复杂化。

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