Congenital nonhemolytic hyperbilirubinemias

Ann Univ Mariae Curie Sklodowska Med. 2004;59(1):449-52.


Congenital nonhemolytic hyperbilirubinemias (CNH) are quite rare pathology of liver. They occur most often in children, but are common in adults too. A common feature of congenital nonhemolytic hyperbilirubinemias is an abnormal serum bilirubin level without other abnormalities in routine liver functional tests. Liver histology on light microscopy is normal. Hereditary genetics defect of enzymes taking part in metabolism of bilirubin is the cause of CNH. They are divided into two groups: with unconjugated hyperbilirubinemia (Crigler-Najjar syndrome, Gilbert syndrome) and conjugated hyperbilirubinemia (Dubin-Johnson syndrome and Rotor syndrome). Because CNH in adults are benign disorders and the prognosis is excellent, patients do not require any specific therapy. Is important to take the differential diagnosis. Once the diagnosis of congenital nonhemolytic hyperbilirubinemia is confirmed, patients should be informed of the disease process and its benign nature to prevent needless work-up in the future. In present, CNH are treated as cosmetic defects and no therapy is applied.

MeSH terms

  • Adult
  • Bilirubin / blood*
  • Biopsy
  • Chromosome Aberrations
  • Crigler-Najjar Syndrome / blood
  • Crigler-Najjar Syndrome / diagnosis
  • Crigler-Najjar Syndrome / genetics
  • Diagnosis, Differential
  • Genes, Dominant
  • Genes, Recessive
  • Gilbert Disease / blood
  • Gilbert Disease / diagnosis
  • Gilbert Disease / genetics
  • Glucuronosyltransferase / deficiency
  • Glucuronosyltransferase / genetics
  • Humans
  • Hyperbilirubinemia, Hereditary / blood
  • Hyperbilirubinemia, Hereditary / diagnosis*
  • Hyperbilirubinemia, Hereditary / genetics
  • Infant
  • Infant, Newborn
  • Liver / pathology
  • Liver Function Tests
  • Mutation


  • bilirubin glucuronoside glucuronosyltransferase
  • Glucuronosyltransferase
  • Bilirubin