Normal bromsulfalein excretion in familial non-hemolytic jaundice

A patient with familial non-hemolytic jaundice with normal Bromsulfalein retention test is presented. Discussion on this unusual observation is done. It is suggested that preservation of BSP excretion by the liver cells occur inspite of defective excretion of bilirubin. It is postulated that this is due to the presence of binding site for the dye and not for bilirubin on the protein molecule carrier within the liver cytoplasm. The protein is necessary for excretion of substances by the liver. (Summary)

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

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)

Familial non-hemolytic jaundice with conjugated and unconjugated hyperbilirubinemia

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)