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世界核心医学期刊文摘（胃肠病学分册） 2006年第1期2卷 59-60页

作者： Koyama C. HayashiH. wakusawas. 程欣 Department of Medicine Asanogawa General Hospital Naka 83 Kosaka-cho Kanazawa 920-8621 Japan

Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload, including cardiomyopathy and hypogonadism, in their teens and early 20s. In this report, we describe three Japanese patients who showed typical clinical and hepatic histological damage compatible with hemochromatosis at around 50 years of age. Genetic analyses showed that all three patients carried mutations in the hemojuvelin gene. The first patient was homozygous for a novel mutation (745G > C[D249H]), and the second and third patients from the same family were homozygous for another novelmutation (934C > T [Q312X]). No mutations in their HFE, hepcidin, transferrin receptor 2, or ferroportin genes were found. One patient had chronic infection with Helicobacter pylori. The age at initial presentation of hemojuvelin-hemochromatosis occurs over a wider range than previously described.

关键词：蛋白沉积基因突变基因分析纯合突变性腺功能减退肝脏组织学心肌病转铁蛋白受体铁超载遗传

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静脉放血治疗Dubin-Johnson综合症合并HCV阳性慢性肝病患者后血清胆红素浓度改善

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世界核心医学期刊文摘（胃肠病学分册） 2005年第4期1卷 57-57页

作者： Machida I. wakusawas. HayashiH. 杨雪娟 Department of Medicine Fac. Pharmaceut. Sci. Hokuriku Univ. Ho-3 Kanagawa-machi Kanazawa 920-1181 Japan

Direct-type hyperbilirubinemia in Dubin-Johnson syndrome is due to the genetic dysfunction of multidrug resistance protein 2. However, serum bilirubin levels may fluctuate as a result of acquired conditions. Iron-reduction therapy by venesection, an alternative to interferon, was performed in a 55-year-old male patient with Dubin-Johnson syndrome complicated by hepatitis C virus-positive chronic liver disease and hepatic iron overload. His pretreatment serum total bilirubin was 10.2 mg/dl, with a dominant direct fraction. The treatment induced a significant reduction in serum total bilirubin, although it remained as high as 7.9 mg/dl. A negative correlation between serum total bilirubin and cumulative bled volume suggested that venesection could suppress bilirubin production from aged erythrocytes. The hepatic iron overload was distributed in hepatocyte lysosomes with Dubin-Johnson granules; thus, it seems that iron removal from the lysosomal granules may also help to reduce serum bilirubin. In conclusion, deep jaundice in a patient with Dubin-Johnson syndrome complicated by hepatitis C virus-positive chronic liver disease and iron overload was partially improved by iron-reduction therapy.

关键词：慢性肝病患者 Dubin-Johnson HCV阳性干扰因素胆红素血症溶酶体多药耐药性肝细胞负荷分布功能障碍

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