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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

Etiology

UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.
Abuduxikuer K, Fang LJ, Li LT, Gong JY, Wang JS
Medicine (Baltimore) 2018 Dec;97(49):e13576. doi: 10.1097/MD.0000000000013576. PMID: 30544479Free PMC Article
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
Genes for jaundice.
Hardikar W
J Paediatr Child Health 1999 Dec;35(6):522-4. doi: 10.1046/j.1440-1754.1999.00431.x. PMID: 10620165
The hereditary hyperbilirubinaemias.
Nowicki MJ, Poley JR
Baillieres Clin Gastroenterol 1998 Jun;12(2):355-67. doi: 10.1016/s0950-3528(98)90139-7. PMID: 9890077
Genetics and gastroenterology.
McConnell RB
Gut 1971 Jul;12(7):592-8. doi: 10.1136/gut.12.7.592. PMID: 4934411Free PMC Article

Diagnosis

Benign inheritable disorders of bilirubin metabolism manifested by conjugated hyperbilirubinemia-A narrative review.
Morais MB, Machado MV
United European Gastroenterol J 2022 Sep;10(7):745-753. Epub 2022 Jul 20 doi: 10.1002/ueg2.12279. PMID: 35860851Free PMC Article
Inherited disorders of bilirubin clearance.
Memon N, Weinberger BI, Hegyi T, Aleksunes LM
Pediatr Res 2016 Mar;79(3):378-86. Epub 2015 Nov 23 doi: 10.1038/pr.2015.247. PMID: 26595536Free PMC Article
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
Genes for jaundice.
Hardikar W
J Paediatr Child Health 1999 Dec;35(6):522-4. doi: 10.1046/j.1440-1754.1999.00431.x. PMID: 10620165
Hereditary galactokinase deficiency.
Cook JG, Don NA, Mann TP
Arch Dis Child 1971 Aug;46(248):465-9. doi: 10.1136/adc.46.248.465. PMID: 5109408Free PMC Article

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 and phototherapy.
Lucey JF
Pediatr Clin North Am 1972 Nov;19(4):827-39. doi: 10.1016/s0031-3955(16)32768-7. PMID: 4564822
Hyperbilirubinemia of fasting.
Barrett PV
JAMA 1971 Sep 6;217(10):1349-53. PMID: 5109641
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
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
Coexpression of gene polymorphisms involved in bilirubin production and metabolism.
Lin Z, Fontaine J, Watchko JF
Pediatrics 2008 Jul;122(1):e156-62. Epub 2008 Jun 16 doi: 10.1542/peds.2007-3249. PMID: 18558634
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
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

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