eMedicine Specialties > Gastroenterology > Liver
Crigler-Najjar Syndrome: Follow-up
Updated: Aug 8, 2006
Follow-up
Complications
- Prompt treatment of kernicterus in patients with type 1 CNS is required to prevent development of potentially devastating neurological sequelae.
Prognosis
- Untreated type 1 CNS is uniformly lethal by age 2 years, secondary to the development of kernicterus.
Miscellaneous
Medicolegal Pitfalls
- Failure to make the diagnosis
- Failure to promptly and properly treat the condition
- Failure to consider concomitant illnesses
More on Crigler-Najjar Syndrome |
| Overview: Crigler-Najjar Syndrome |
| Differential Diagnoses & Workup: Crigler-Najjar Syndrome |
| Treatment & Medication: Crigler-Najjar Syndrome |
Follow-up: Crigler-Najjar Syndrome |
| References |
| « Previous Page |
References
Arias IM, Gartner LM, Cohen M. Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. Am J Med. Sep 1969;47(3):395-409. [Medline].
Costa E. Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes. Blood Cells Mol Dis. Jan-Feb 2006;36(1):77-80.
Gupta R, Parashar Y. Crigler-najjar syndrome type II. Indian J Pediatr. Nov 2004;71(11):1043.
Jansen PL. Genetic diseases of bilirubin metabolism: the inherited unconjugated hyperbilirubinemias. J Hepatol. Sep 1996;25(3):398-404. [Medline].
Jansen PL. Diagnosis and management of Crigler-Najjar syndrome. Eur J Pediatr. Dec 1999;158 Suppl 2:S89-94. [Medline].
Lucey JF, Suresh GK, Kappas A. Crigler-Najjar syndrome, 1952-2000: learning from parents and patients about a very rare disease and using the internet to recruit patients for studies. Pediatrics. May 2000;105(5):1152-3. [Medline].
Nowicki MJ, Poley JR. The hereditary hyperbilirubinaemias. Baillieres Clin Gastroenterol. Jun 1998;12(2):355-67. [Medline].
Owens IS, Basu NK, Banerjee R. UDP-glucuronosyltransferases: gene structures of UGT1 and UGT2 families. Methods Enzymol. 2005;400:1-22.
Petit FM, Gajdos V, Francoual J. Allelic heterogeneity of Crigler-Najjar type I syndrome: a study of 24 cases. Clin Genet. Dec 2004;66(6):571-2.
Sampietro M, Iolascon A. Molecular pathology of Crigler-Najjar type I and II and Gilbert''s syndromes. Haematologica. Feb 1999;84(2):150-7.
Servedio V, d''Apolito M, Maiorano N. Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. Hum Mutat. Mar 2005;25(3):325.
Shevell MI, Majnemer A, Schiff D. Neurologic perspectives of Crigler-Najjar syndrome type I. J Child Neurol. Jun 1998;13(6):265-9.
Sleisenger MH, Fordtran JS. Gastrointestinal Disease. Philadelphia, Pa:. WB Sanders Company;1993:Chapter 85.
Takeuchi K, Kobayashi Y, Tamaki S. Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert''s syndrome as well as in healthy Japanese subjects. J Gastroenterol Hepatol. Sep 2004;19(9):1023-8.
Further Reading
Keywords
CNS, Crigler-Najjar disease, Gilbert syndrome, Arias syndrome, congenital nonhemolytic jaundice, neonatal jaundice, inherited unconjugated hyperbilirubinemias, uridine diphosphate glycosyltransferase, UGT, kernicterus, bilirubin encephalopathy, plasma exchange transfusion
Follow-up: Crigler-Najjar Syndrome