Crigler-Najjar Syndrome Differential Diagnoses

  • Author: Praveen K Roy, MD, AGAF; Chief Editor: Julian Katz, MD   more...
 
Updated: Mar 2, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Praveen K Roy, MD, AGAF  Gastroenterologist, Ochsner Clinic Foundation; Adjunct Associate Research Scientist, Lovelace Respiratory Research Institute; Editor-in-Chief, The Internet Journal of Gasteroenterology; Editorial Board, Signal Transduction Insights; Editorial Board, The Internet Journal of Epidemiology; Editorial Board, Gastrointestinal Endoscopy Review Letter

Praveen K Roy, MD, AGAF is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, and American Society of Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Coauthor(s)

Mohamed Othman, MD  Resident 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  Associate Professor, Department of Clinical Medicine, University of Missouri School of Medicine

Jack Bragg, DO is a member of the following medical societies: American College of Osteopathic Internists and American Osteopathic Association

Disclosure: Nothing to disclose.

Gautam Dehadrai, MD  Department Chair, Section Chief, Department of Interventional Radiology, Norman Regional Hospital

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.

Showkat Bashir, MD  Assistant Professor, Department of Medicine, Division of Gastroenterology, George Washington University, Washington, DC

Showkat Bashir, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, and American Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Tushar Patel, MB, ChB  Professor of Medicine, Ohio State University Medical Center

Tushar Patel, MB, ChB is a member of the following medical societies: American Association for the Study of Liver Diseases and American Gastroenterological Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

BS Anand, MD  Professor, Department of Internal Medicine, Division of Gastroenterology, Baylor 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.

Alex J Mechaber, MD, FACP  Senior Associate Dean for Undergraduate Medical Education, Associate Professor of 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

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 & Ethics, American Trauma Society, Association of American Medical Colleges, and Physicians for Social Responsibility

Disclosure: Nothing to disclose.

References

  1. Sneitz N, Bakker CT, de Knegt RJ, et al. Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. Hum Mutat. Jan 2010;31(1):52-9. [Medline].

  2. Miranda PS, Bosma PJ. Towards liver-directed gene therapy for Crigler-Najjar syndrome. Curr Gene Ther. Apr 2009;9(2):72-82. [Medline].

  3. Birraux J, Menzel O, Wildhaber B, et al. A step toward liver gene therapy: efficient correction of the genetic defect of hepatocytes isolated from a patient with Crigler-Najjar syndrome type 1 with lentiviral vectors. Transplantation. Apr 15 2009;87(7):1006-12. [Medline].

  4. Lysy PA, Najimi M, Stephenne X, et al. Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives. World J Gastroenterol. Jun 14 2008;14(22):3464-70. [Medline]. [Full Text].

  5. Ozcay F, Alehan F, Sevmis S, et al. Living related liver transplantation in Crigler-Najjar syndrome type 1. Transplant Proc. Sep 2009;41(7):2875-7. [Medline].

  6. 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].

  7. 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. [Medline].

  8. Gupta R, Parashar Y. Crigler-Najjar syndrome type II. Indian J Pediatr. Nov 2004;71(11):1043. [Medline].

  9. Hafkamp AM, Nelisse-Haak R, Sinaasappel M, Oude Elferink RP, Verkade HJ. Orlistat treatment of unconjugated hyperbilirubinemia in Crigler-Najjar disease: a randomized controlled trial. Pediatr Res. Dec 2007;62(6):725-30. [Medline].

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

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

  12. 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].

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

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

  15. 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.

  16. Robards C, Brull SJ. The anesthetic implications of Crigler-Najjar syndrome. Anesth Analg. Feb 2007;104(2):435-6. [Medline].

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

  18. Servedio V, d'Apolito M, Maiorano N, et al. 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. [Medline].

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

  20. Sleisenger MH, Fordtran JS, eds. Gastrointestinal Diseases: Pathophysiology, Diagnosis, Management. 5th ed. Philadelphia, Pa: WB Saunders Co; 1993:Chapter 85.

  21. 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.

  22. Zmetakova I, Ferak V, Minarik G, et al. Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia. Gen Physiol Biophys. Dec 2007;26(4):306-10. [Medline].

 
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