eMedicine Specialties > Gastroenterology > Liver

Crigler-Najjar Syndrome: Follow-up

Author: Praveen K Roy, MD, Comments and Criticisms Editor, Cochrane Colorectal Cancer Group
Coauthor(s): Mohamed Othman, MD, Staff Physician, Department of Internal Medicine, University of New Mexico School of Medicine; Alessio Pigazzi, MD, PhD, Head, Minimally Invasive Surgery Program, Division of Surgery, Department of General Oncologic Surgery, City of Hope National Medical Center; Jack Bragg, DO, FACOI, Assistant Professor, Department of Clinical Medicine, University of Missouri School of Medicine; Gautam Dehadrai, MD, Consulting Staff, Section Chief, Department of Interventional Radiology, Veterans Affairs Medical Center, Albuquerque
Contributor Information and Disclosures

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

References

  1. 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].

  2. 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.

  3. Gupta R, Parashar Y. Crigler-najjar syndrome type II. Indian J Pediatr. Nov 2004;71(11):1043.

  4. Jansen PL. Genetic diseases of bilirubin metabolism: the inherited unconjugated hyperbilirubinemias. J Hepatol. Sep 1996;25(3):398-404. [Medline].

  5. Jansen PL. Diagnosis and management of Crigler-Najjar syndrome. Eur J Pediatr. Dec 1999;158 Suppl 2:S89-94. [Medline].

  6. 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].

  7. Nowicki MJ, Poley JR. The hereditary hyperbilirubinaemias. Baillieres Clin Gastroenterol. Jun 1998;12(2):355-67. [Medline].

  8. Owens IS, Basu NK, Banerjee R. UDP-glucuronosyltransferases: gene structures of UGT1 and UGT2 families. Methods Enzymol. 2005;400:1-22.

  9. 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.

  10. Sampietro M, Iolascon A. Molecular pathology of Crigler-Najjar type I and II and Gilbert''s syndromes. Haematologica. Feb 1999;84(2):150-7.

  11. 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.

  12. Shevell MI, Majnemer A, Schiff D. Neurologic perspectives of Crigler-Najjar syndrome type I. J Child Neurol. Jun 1998;13(6):265-9.

  13. Sleisenger MH, Fordtran JS. Gastrointestinal Disease. Philadelphia, Pa:. WB Sanders Company;1993:Chapter 85.

  14. 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

Contributor Information and Disclosures

Author

Praveen K Roy, MD, Comments and Criticisms Editor, Cochrane Colorectal Cancer Group
Praveen K Roy, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, and Canadian Association of Gastroenterology
Disclosure: Nothing to disclose.

Coauthor(s)

Mohamed Othman, MD, Staff Physician, Department of Internal Medicine, University of New Mexico School of Medicine
Disclosure: Nothing to disclose.

Alessio Pigazzi, MD, PhD, Head, Minimally Invasive Surgery Program, Division of Surgery, Department of General Oncologic Surgery, City of Hope National Medical Center
Disclosure: Nothing to disclose.

Jack Bragg, DO, FACOI, Assistant Professor, Department of Clinical Medicine, University of Missouri School of Medicine
Jack Bragg, DO, FACOI is a member of the following medical societies: American College of Osteopathic Internists and American Osteopathic Association
Disclosure: Nothing to disclose.

Gautam Dehadrai, MD, Consulting Staff, Section Chief, Department of Interventional Radiology, Veterans Affairs Medical Center, Albuquerque
Gautam Dehadrai, MD is a member of the following medical societies: American College of Radiology, Medical Council of India, and Radiological Society of North America
Disclosure: Nothing to disclose.

Medical Editor

Tushar Patel, MD, Associate Professor, Department of Internal Medicine, Texas A&M College of Medicine
Tushar Patel, MD is a member of the following medical societies: American Association for the Study of Liver Diseases and American Gastroenterological Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

BS Anand, MD, Department of Internal Medicine, Division of Gastroenterology, Professor, Baylor University College of Medicine
BS Anand, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Gastroenterology, American Gastroenterological Association, and American Society for Gastrointestinal Endoscopy
Disclosure: Nothing to disclose.

CME Editor

Alex J Mechaber, MD, FACP, Assistant Dean for Medical Curriculum, Associate Professor of Medicine, Division of General Internal Medicine, University of Miami Miller School of Medicine
Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine
Disclosure: Nothing to disclose.

Chief Editor

Julian Katz, MD, Clinical Professor of Medicine, Drexel University College of Medicine; Consulting Staff, Department of Medicine, Section of Gastroenterology and Hepatology, Hospital of the Medical College of Pennsylvania
Julian Katz, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Geriatrics Society, American Medical Association, American Society for Gastrointestinal Endoscopy, American Society of Law Medicine and Ethics, American Trauma Society, Association of American Medical Colleges, and Physicians for Social Responsibility
Disclosure: Nothing to disclose.

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