Inheritance of the Dubin-Johnson-Sprinz Syndrome.

摘要

Information on families of 44 patients fulfilling strict criteria for the Dubin-Johnson-Sprinz (DJS) syndrome revealed that parental consanguinity in at least 11 cases. Direct and total serum bilirubin levels and sulfobromophthalein retention levels were determined on siblings, parents, and children of these DJS patients. Conjugated hyperbilirubinemia and elevated, increasing serum sulfobromophthalein retention at 2 hr, characteristic of the DJS syndrome, were observed in 17 of 44 tested siblings of propositi. Results of these liver function tests on all of 20 parents and 64 children of DJS patients indicated that they were not affected. The high frequency of parental consanguinity, the incidence of the syndrome among siblings of propositi, the lack of involvement of more than one generation within each family, and consideration of other reports of familial DJS syndrome suggest that the DJS syndrome is inherited only as an autosomal recessive trait. Appreciation of the mode of inheritance may be helpful in the differential diagnosis of the constitutional hyperbilirubinemias and in the elucidation of the nature of the hepatic excretory defect in the DJS syndrome and other constitutional hyperbilirubinemias.