摘要
AIM： To describe the pattern of inheritance and confirm the diagnostic criteda of primary shunt hyperbilirubinaemia （PSH）. METHODS： Forty members of a family pedigree across four generations were included in this study. All family members were interviewed and investigated by physical examination, hematology and liver function test and the pattern of inheritance was analyzed. RESULTS： Nine of the forty family members suffered primary shunt hyperbilirubinaemia. The mature erythrocytes of the propositus were irregular in shape and size. The pedigree showed transmission of the trait through four generations with equal distribution in male and female. No individual with a primary shunt hyperbilirubinaemia was born to unaffected parents. The penetrance was complete in adult. CONCLUSION： The pattern of inheritance is autosomal dominant. The abnormality of erythrocytes and decrease in white blood cell could be supplemented in the diagnosis of PSH. The PSH is a genetic disorder and could by renamed as hereditary shunt hyperbilirubinaemia.
瞄准：描述继承的模式并且证实主要分流 hyperbilirubinaemia (PSH ) 的诊断标准。方法：越过四代的一个家庭家谱的四十个成员在这研究被包括。所有家庭成员被体格检查，血液学和肝功能测试和继承的模式会见并且调查被分析。结果：四十个家庭成员中的九个承受了主要分流 hyperbilirubinaemia。渊源人的成熟红血球在形状和尺寸是不规则的。家谱在男性和女性与相等的分发通过四代显示出特点的传播。有主要分流 hyperbilirubinaemia 的个人都没出生到未受影响的父母。外显率在成年人是完全的。结论：继承的模式是正染色体的主导。在白血房间的红血球和减少的反常能在 PSH 的诊断被补充。PSH 是基因混乱并且能由重命名的同样世袭的分流 hyperbilirubinaemia。
