Congenital nonhemolytic hyperbilirubinemias.
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.
Cichoz-Lach
Halina
H
Department of Gastroenterology, Skubiszewski Medical University of Lublin.
Celiński
Krzysztof
K
Słomka
Maria
M
D000328:Adult; D001663:Bilirubin / Q000097:blood*; D001706:Biopsy; D002869:Chromosome Aberrations; D003414:Crigler-Najjar Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005799:Genes, Dominant; D005808:Genes, Recessive; D005878:Gilbert Disease / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D014453:Glucuronosyltransferase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests; D009154:Mutation
C019787:bilirubin glucuronoside glucuronosyltransferase; D014453:Glucuronosyltransferase; D001663:Bilirubin