Crigler-Najjar syndrome

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.

Unconjugated hyperbilirubinemia

An increased amount of unconjugated (indirect) bilurubin in the blood.


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PMID (PMCID)
31142299
 OTHER
A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report.
Shi X, Aronson S, Khan AS, Bosma PJ.
BMC Pediatr. 2019;19(1):173.
Crigler-Najjar syndrome (CNs) presents as unconjugated hyperbilirubinemia, as a result of UGT1A1 deficiency, and can be categorized in a severe (type I) and mild (type II) phenotype.
30285761
(6169020)
 OTHER
Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.
Gailite L, Rots D, Pukite I, Cernevska G, Kreile M.
BMC Pediatr. 2018;18(1):317.
Inherited unconjugated hyperbilirubinemia is caused by variants in the gene UGT1A1 leading to Gilbert's syndrome and Crigler-Najjar syndrome types I and II.
25966095
 MALE Infant
Compound heterozygosity of a novel exon 3 frameshift (p.R357P fs*24) mutation and Y486D mutation in exon 5 of the UGT1A1 gene in a Thai infant with Crigler-Najjar syndrome type 2.
Tesapirat L, Nilyanimit P, Wanlapakorn N, Poovorawan Y.
Genet Mol Res. 2015;14(2):3293-9.
Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome (CN), which causes non-hemolytic unconjugated hyperbilirubinemia, and is categorized as CN1 and CN2 according to the severity of bilirubin levels.
26220753
 FEMALE Adult
Disruption of HNF1alpha binding site causes inherited severe unconjugated hyperbilirubinemia.
van Dijk R, Mayayo-Peralta I, Aronson SJ, Kattentidt-Mouravieva AA, van der Mark VA, de Knegt R, Oruc N, Beuers U, Bosma PJ.
J Hepatol. 2015;63(6):1525-9.
Crigler-Najjar syndrome presents as severe unconjugated hyperbilirubinemia and is characteristically caused by a mutation in the UGT1A1 gene, encoding the enzyme responsible for bilirubin glucuronidation.
25319636
(4287334)
 MIXED_SAMPLE Infant
Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis.
Zheng B, Hu G, Yu J, Liu Z.
BMC Pediatr. 2014;14:267.
Many mutations have already been identified in patients with inherited disorders with unconjugated hyperbilirubinemia, such as Crigler-Najjar syndromes and Gilbert's syndrome.
18555136
 FEMALE
Treatment of Crigler-Najjar Syndrome type 1 by hepatic progenitor cell transplantation: a simple procedure for management of hyperbilirubinemia.
Khan AA, Parveen N, Mahaboob VS, Rajendraprasad A, Ravindraprakash HR, Venkateswarlu J, Rao P, Pande G, Narusu ML, Khaja MN, Pramila R, Habeeb A, Habibullah CM.
Transplant Proc. 2008;40(4):1148-50.
Crigler-Najjar Syndrome (CNS) is characterized by mild, chronic unconjugated hyperbilirubinemia resulting from an autosomal-recessive inherited deficiency of hepatic uridine/diphosphoglucuronate-glucuronosyl transferase 1Al since birth.
16830281
 MIXED_SAMPLE Adult
Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II.
Yilmaz S, Dursun M, Canoruc F, Kidir V, Bestas R.
Turk J Gastroenterol. 2006;17(1):62-5.
Crigler-Najjar syndrome type II is a rare familial disorder of bilirubin conjugation with consecutive life-long unconjugated hyperbilirubinemia.
16026101
 MALE Adult
[A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation].
Shimizu N, Mizutani M, Aoki T.
No To Hattatsu. 2005;37(4):337-41.
Crigler-Najjar syndrome type I is an autosomal recessive disorder with severe unconjugated hyperbilirubinemia, caused by the complete absence of bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT) activity.
9660509
 MIXED_SAMPLE Child
Neurologic perspectives of Crigler-Najjar syndrome type I.
Shevell MI, Majnemer A, Schiff D.
J Child Neurol. 1998;13(6):265-9.
Limited information exists on the neurologic sequelae of Crigler-Najjar syndrome type I despite this being the major morbidity of this rare autosomal recessive disorder of bilirubin conjugation that results in chronic unconjugated hyperbilirubinemia.
9178703
 MALE Adult
Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert-type genetic defect.
Chalasani N, Chowdhury NR, Chowdhury JR, Boyer TD.
Gastroenterology. 1997;112(6):2099-103.
In contrast, Crigler-Najjar syndrome types I and II are rare genetic disorders associated with severe unconjugated hyperbilirubinemia and a life-long risk of kernicterus.
8721137
 MALE Middle Aged
[Anesthetic and postoperative care of a patient with Crigler-Najjar syndrome type II].
Hamada T, Miyamoto M, Oda S, Taniguchi K, Honda N.
Masui. 1996;45(3):345-7.
Crigler-Najjar syndrome is a rare inherited deficiency of bilirubin uridine diphosphate glucuronyl transferase, characterised by lifelong unconjugated hyperbilirubinemia.
7936809
 MALE Infant
A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I.
Aono S, Yamada Y, Keino H, Sasaoka Y, Nakagawa T, Onishi S, Mimura S, Koiwai O, Sato H.
Pediatr Res. 1994;35(6):629-32.
Crigler-Najjar syndrome (CN) type I, which is characterized by the complete absence of bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT) activity, is inherited as an autosomal recessive trait associated with unconjugated hyperbilirubinemia.
1699740
 MALE
Neurophysiological abnormalities in adolescents with type I Crigler-Najjar syndrome.
Solomon G, Labar D, Galbraith RA, Schaefer J, Kappas A.
Electroencephalogr Clin Neurophysiol. 1990;76(5):473-5.
We report neurophysiological abnormalities in two adolescents with type I Crigler-Najjar syndrome, an autosomal recessive disorder characterized by severe unconjugated hyperbilirubinemia.
3115090
 MALE Adult
Acute hepatitis in Crigler-Najjar syndrome.
Sherker AH, Heathcote J.
Am J Gastroenterol. 1987;82(9):883-5.
We describe a 23-yr-old man with congenital unconjugated hyperbilirubinemia secondary to uridine diphosphate glucuronosyltransferase deficiency, and who cannot readily be classified as type I or type II Crigler-Najjar syndrome.
1261771
 MALE
Bilirubin secretion and conjujation in the Crigler-Najjar syndrome type II.
Gordon ER, Shaffer EA, Sass-Kortsak A.
Gastroenterology. 1976;70(5 PT.1):761-5.
Features characteristic of the Crigler-Najjar syndrome (type II) are described in an adolescent boy with severe congenital unconjugated hyperbilirubinemia.