【摘要】 目的　确定原发性旁路高胆红素血症为遗传病并确定其遗传方式。方法　临床病例结合家系谱分析。结果　原发性旁路高胆红素血症患者除表现为黄疸、贫血和脾大外 ,尚有外周血白细胞数减少 ,网织红细胞数不升高 ,外周血和骨髓成熟红细胞形态异常和大小不一 ,可见靶形 ,杆状 ,口形和球形等异常红细胞。家系谱分析发现 ,4代人每代都有患者 ,垂直传播 ,男女均患病 ,成人显性充分 ,病情严重程度不一。结论　原发性旁路高胆红素血症是一种遗传性疾病 ,遗传方式为常染色体显性遗传。建议将原发性旁路高胆红素血症更名为遗传性旁路高胆红素血症更多还原

【Abstract】 Objective To identify whether primary shunt hyperbilirubinaemia is a genetic disorder or not and the pattern of the inheritance Method Clinical case data were studied with analysis of family pedigree of a case Results Although the patient with primary shunt hyperbilirubinaemia presented an elevated unconjugated serum bilirubin,anemia and splenomegaly, the patient also presented decline of amount of peripheral white cells and normal amount of reticulocytes The mature erythrocytes in peripheral blood and bone marrow were irregular in shape and size There were also some target , rod , and mouth shaped peripheral red cells in blood smear With analysis of family pedigree, we can find that there were some patients with the primary shunt hyperbilirubinaemia in every generation of the family with equal distribution in male and female The pattern of inheritance was transmitted from one generation to the next generation directly Almost any manifestation of the disease may be found in adult patients, but the severity of the disorder was not the same among these patients Conclusions The primary shunt hyperbilirubinaemia is a genetic disease; its pattern of inheritance is autosomal dominant It is suggested that the disease of primary shunt hyperbilirubinaemia could be renamed as hereditary shunt hyperbilirubinaemia更多还原