Familial non-hemolytic jaundice a possible mutiple exretory defect (preliminary report)

ABSTRACT

A preliminary study is reported on 69 out of 109 members of a family in which a brother and three sisters presented the classic features of Familial non-hemolytic jaundice. The four jaundiced members have quantitative differences in the clinical and chemical expression of this disease. They are the maintenance of a different basal degrees of icterus, elevation of serum bilirubin during pregnancy, levels of alkaline phosphatase and levels of serum bilirubin for each affected members. Elevations of protein-bound iodine and serum cholesterol likewise occurred in some members of this family. Discussion on the possible liver excretory defect in this disease is done. It is tentatively suggested that Familial non-hemolytic jaundice results from various expressions of quantitative and qualitative excretory defects for different substances, notably conjugated bilirubin, iodopanoic acid, liver pigments (metanephrine glucuronide), Bromsulfalein and possibly iodine and cholesterol. A protein molecule which transport various substances for excretion from the endoplasmic reticulum to the bile canaliculus is postulated. The absence or presence of binding sites in this protein are genetically controlled and could bring about various combinations of hepatic excretory defects in a pedigree. (Summary)