title: Inherited disorders of bilirubin clearance.
abstract: Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. Reduced hepatic bilirubin clearance can be due to defective (i) unconjugated bilirubin uptake and intrahepatic storage, (ii) conjugation of glucuronic acid to bilirubin (e.g., Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, breast milk jaundice), (iii) bilirubin excretion into bile (Dubin-Johnson syndrome), or (iv) conjugated bilirubin re-uptake (Rotor syndrome). In this review, the molecular mechanisms and clinical manifestations of these conditions are described, as well as current approaches to diagnosis and therapy.
authors.affiliation: Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.
authors.forename: Naureen
authors.initials: N
authors.lastname: Memon
authors.affiliation: Department of Pediatrics, Cohen Children's Medical Center of New York, New Hyde Park, New York.
authors.forename: Barry I
authors.initials: BI
authors.lastname: Weinberger
authors.affiliation: Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.
authors.forename: Thomas
authors.initials: T
authors.lastname: Hegyi
authors.affiliation: Department of Pharmacology and Toxicology, Rutgers University, Piscataway, New Jersey.
authors.forename: Lauren M
authors.initials: LM
authors.lastname: Aleksunes
mesh_terms: D000818:Animals; D001646:Bile / Q000737:chemistry; D001663:Bilirubin / Q000097:blood* / Q000737:chemistry / Q000378:metabolism; D003414:Crigler-Najjar Syndrome / Q000235:genetics; D005878:Gilbert Disease / Q000235:genetics; D020723:Glucuronic Acid / Q000737:chemistry; D014453:Glucuronosyltransferase / Q000235:genetics; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000175:diagnosis / Q000235:genetics*; D051556:Hyperbilirubinemia, Neonatal / Q000175:diagnosis / Q000235:genetics*; D007566:Jaundice, Chronic Idiopathic / Q000235:genetics; D008099:Liver / Q000378:metabolism; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D020723:Glucuronic Acid; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme