[Analysis of a family pedigree with primary shunt hyperbilirubinaemia]

To identify whether primary shunt hyperbilirubinaemia is a genetic disorder or not and the pattern of the inheritance.

Clinical case data were studied with analysis of family pedigree of a case.

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.

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.