Familial non-hemolytic jaundice with conjugated and unconjugated hyperbilirubinemia

ABSTRACT

Ten jaundiced and sixty nine non-jaundiced members from two unrelated families were the subjects of this report. The jaundiced members showed qualitative and quantitative differences in the clinical and chemical expression of this disease. Excretory defects such as idiopathic hypercholesterolemia and asymptomatic PBI elevations were noted in jaundiced and non-jaundiced members. It was emphasized that this disease may manifest with various combinations of excretory defects for conjugated forms of bilirubin, iodopanoic acid (Telepaque), Bromsulfalein (BSP), liver pigment (? metanephrine glucuronide) and probably iodine and cholic acid. It was postulated that a protein carrier in the liver cytoplasma have binding sites for these substances. Variations of binding sites on these protein molecules result in different manifestations in affected members of a family or different families with this disease. It also show that they are not necessarily different syndromes. (Summary)