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Hereditary hyperbilirubinemia

MedGen UID:
6963
•Concept ID:
C0020435
•
Disease or Syndrome
Synonyms: Hereditary Hyperbilirubinemia; Hereditary Hyperbilirubinemias; Hyperbilirubinemia, Hereditary; Hyperbilirubinemias, Hereditary
 
Monarch Initiative: MONDO:0002408
OMIM® Phenotypic series: PS237450

Definition

An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome. [from NCI]

Professional guidelines

PubMed

Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia.
Rets A, Clayton AL, Christensen RD, Agarwal AM
Int J Lab Hematol 2019 May;41 Suppl 1:95-101. doi: 10.1111/ijlh.13014. PMID: 31069991
Diagnostic criteria and contributors to Gilbert's syndrome.
Wagner KH, Shiels RG, Lang CA, Seyed Khoei N, Bulmer AC
Crit Rev Clin Lab Sci 2018 Mar;55(2):129-139. Epub 2018 Feb 1 doi: 10.1080/10408363.2018.1428526. PMID: 29390925
Cardiovascular diseases and other evidence for primary care clinical practice.
Bowman MA, Neale AV
J Am Board Fam Med 2012 Jul-Aug;25(4):403-5. doi: 10.3122/jabfm.2012.04.120113. PMID: 22773706

Recent clinical studies

Therapy

Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).
Strassburg CP
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):555-71. doi: 10.1016/j.bpg.2010.07.007. PMID: 20955959
Neonatal nonhemolytic jaundice.
Johnson JD
N Engl J Med 1975 Jan 23;292(4):194-7. doi: 10.1056/NEJM197501232920406. PMID: 803225
Neonatal jaundice.
Scheig R
Am Fam Physician 1974 Oct;10(4):158-64. PMID: 4414786
Neonatal jaundice and phototherapy.
Lucey JF
Pediatr Clin North Am 1972 Nov;19(4):827-39. doi: 10.1016/s0031-3955(16)32768-7. PMID: 4564822
The newer hyperbilirubinemias.
Harris RC
Dis Mon 1968 Mar:1-32. doi: 10.1016/s0011-5029(68)80008-2. PMID: 4968708

Prognosis

Coronary Artery Disease in Patients With Disorders of Bilirubin Excretion.
Gupta N, Chaudhary R, Krishnamoorthy P, Mahajan S, Bodin R, Sule S
Am J Ther 2017 Nov-Dec;24(6):e653-e658. doi: 10.1097/MJT.0000000000000343. PMID: 26448335
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH
J Clin Invest 2012 Feb;122(2):519-28. Epub 2012 Jan 9 doi: 10.1172/JCI59526. PMID: 22232210Free PMC Article
Congenital nonhemolytic hyperbilirubinemias.
Cichoz-Lach H, Celiński K, Słomka M
Ann Univ Mariae Curie Sklodowska Med 2004;59(1):449-52. PMID: 16146029
The familial unconjugated hyperbilirubinemias.
Semin Liver Dis 1994 Nov;14(4):356-85. doi: 10.1055/s-2007-1007328. PMID: 7855631
Icterus and pregnancy.
Friedlaender P, Osler M
Am J Obstet Gynecol 1967 Apr 1;97(7):894-900. doi: 10.1016/0002-9378(67)90513-3. PMID: 6021104

Clinical prediction guides

Coronary Artery Disease in Patients With Disorders of Bilirubin Excretion.
Gupta N, Chaudhary R, Krishnamoorthy P, Mahajan S, Bodin R, Sule S
Am J Ther 2017 Nov-Dec;24(6):e653-e658. doi: 10.1097/MJT.0000000000000343. PMID: 26448335
Molecular genetics of unconjugated hyperbilirubinemia in Taiwanese.
Huang CS
J Biomed Sci 2005;12(3):445-50. doi: 10.1007/s11373-005-3863-5. PMID: 15965581
The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes.
Owens IS, Ritter JK
Pharmacogenetics 1992 Jun;2(3):93-108. doi: 10.1097/00008571-199206000-00001. PMID: 1306114
New insights into the classification and mechanisms of hereditary, chronic, non-haemolytic hyperbilirubinaemias.
Berthelot P, Dhumeaux D
Gut 1978 Jun;19(6):474-80. doi: 10.1136/gut.19.6.474. PMID: 98393Free PMC Article
Unconjugated hyperbilirubinaemia in achalasia.
Fevery J, Heirwegh KP, De Groote J
Gut 1974 Feb;15(2):121-4. doi: 10.1136/gut.15.2.121. PMID: 4820636Free PMC Article

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