Familial Nonhemolytic Jaundice

Hepatic Aspects of Bilirubin Metabolism

“…Approximately twenty additional patients with this syndrome have been described and in heritance of an autosomal recessive gene has been demonstrated (110)(111)(112)(113)(114)(115). Significantly reduced glucuronide formation has been demonstrated in vivo (113)(114)(115)(116) and in vitro (116)(117)(118).…”

Congenital Non-Hemolytic Jaundice: Crigler-Najjar Syndrome

“…The composition o f bile has only been examined in a few patients. Bile, obtained from the gall bladder or by duodenal intubation, had a pale colour and contained no bilirubin conjugates [26], or only in minute amounts [20]. In contrast relatively large amounts of direct reacting bile pigments were found in the patient studied by W h it in g t o n 115] and also in the patients described by A r ia s [25].…”

“…Development of kernicterus, as observed for the child Da., occurs frequently [1,3,[13][14][15][16][17][18] but is no constant feature [19,20]. Most patients die in early childhood [1, 16, 17| although a few adults with this syndrome have been reported [20,21].…”

“…Most patients die in early childhood [1, 16, 17| although a few adults with this syndrome have been reported [20,21]. S ugar [20] described an adult patient who fathered a normal and an affected child. Marital consanguinity may be a contributing factor |1, 171 but again there are exceptions, as e.g.…”

Bilirubin Toxicity to Human Erythrocytes: A More Sanguine View

“…In fact, the human disorder was originally described as a "nonhemolytic jaundice," 11 and patients have been described who showed no abnormal erythrocyte morphology, reticulocytosis, or other evidence of hemolysis despite prolonged exposure to high plasma bilirubin concentrations. [12][13][14] Comparisons between nonjaundiced and jaundiced rats with congenital unconjugated bilirubinemia (Gunn rats) showed no difference in hematocrit values in male rats and only slightly lowered values in jaundiced female rats. 15 No difference in the osmotic fragility of red cells from jaundiced and nonjaundiced animals was detected.…”