eMedicine Specialties > Gastroenterology > Liver
Crigler-Najjar Syndrome: Differential Diagnoses & Workup
Updated: Aug 8, 2006
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
Differential Diagnoses
Other Problems to Be Considered
Hemolytic disorders
Neonatal jaundice
Breast milk jaundice
Workup
Laboratory Studies
- Unconjugated hyperbilirubinemia in the presence of normal liver function test findings is characteristic of CNS. The usual bilirubin level is 17-50 mg/dL in type 1 CNS and 6-22 mg/dL in type 2. Higher bilirubin levels may be seen in type 2 CNS if coexisting hemolysis or intercurrent illness is present.
- Transferase activity measurements and the response to phenobarbital treatment distinguish type 1 CNS from type 2. Phenobarbital has no effect in type 1 CNS but causes an approximately 25% reduction in plasma bilirubin level in most patients with type 2 CNS.
Imaging Studies
- Findings on abdominal imaging studies, such as plain x-rays, CT scan, or ultrasound, are normal in CNS.
Histologic Findings
Liver histology findings are normal in CNS.
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 |
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References
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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
Differential Diagnoses & Workup: Crigler-Najjar Syndrome