What are the forms of Crigler-Najjar syndrome?

Updated: May 21, 2019
  • Author: Hisham Nazer, MBBCh, FRCP, DTM&H; Chief Editor: BS Anand, MD  more...
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Answer

Two distinct forms of Crigler-Najjar syndrome are as follows:

  • Crigler-Najjar syndrome type 1 - Associated with neonatal unconjugated hyperbilirubinemia (high levels) and kernicterus

  • Crigler-Najjar syndrome type 2 (also called Arias syndrome) - Presents with a lower serum bilirubin level; responds to phenobarbital treatment

Type 1 is an autosomal recessive disorder, while the mode of inheritance for Crigler-Najjar syndrome type 2 is still not clear. Autosomal dominant transmission with variable penetrance and autosomal recessive transmission have both been reported for type 2.

Over the past decades, progress has been made in the diagnosis and treatment of Crigler-Najjar syndrome. Phototherapy was long recognized as a form of treatment, [9] and in 1986, liver transplantation was shown to be curative. [10] In 1992, the locus of the missing gene behind this disorder was identified. (See Presentation, Workup, Treatment, and Medication.) [11, 12]


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