胆绿素的小说突变reductase-A基因结合肝硬化导致hyperbiliverdinaemia(绿色黄疸)。
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Gafvels M, Holmstrom P, Somell Sjovall F, Svensson乔,斯塔尔L,布鲁姆U,“斯太尔P
胆绿素的小说突变reductase-A基因结合肝硬化导致hyperbiliverdinaemia(绿色黄疸)。
肝脏Int。2009年8月,29 (7):1116 - 24。doi: 10.1111 / j.1478-3231.2009.02029.x。
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19580635 (在PubMed]
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背景:Hyperbiliverdinaemia定义糟糕的临床体征,很少被报道在肝硬化或肝癌的情况下,通常表示一个贫穷的长期预后。目的:阐明hyperbiliverdinaemia的发病机制在一个扩展的病例报告。方法:一个64岁的老人与酒精性肝硬变和严重的食管静脉曲张出血住院。超声显示腹水,但没有胆道扩张。皮肤、sclerae、血浆、尿液和腹水的病人显示绿色外观。胆红素水平是正常的,没有红血球溶解的迹象。胆绿素在血浆和尿液分析液相色谱与质谱。胆绿素的七个其实地区reductase-A (BVR-A)基因被聚合酶链反应扩增和测序。结果:胆绿素存在于血浆和尿液。外显子的核苷酸52我从hyperbiliverdinaemic病人DNA的孤立,我们发现小说杂合的C - - > T无义突变位置的精氨酸(CGA) 18转换成一个终止密码子(TGA) (R18Stop)预测截断Tyr97蛋白质氨基端到活动网站。 Two children of the proband were heterozygous for the identical mutation in the BVR-A gene, but had no clinical signs of liver disease and had normal levels of biliverdin. The BVR-A gene mutation was not found in 200 healthy volunteers or nine patients with end-stage liver cirrhosis. CONCLUSION: Hyperbiliverdinaemia (green jaundice) with green plasma and urine may be caused by a genetic defect in the BVR-A gene in conjunction with decompensated liver cirrhosis.