Genetic Liver Diseases

Treatment of Crigler-Najjar Syndrome

Synonyms: Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar)

Crigler-Najjar syndrome (CNS) is a rare genetic condition in which the liver cannot process bilirubin (a pigment produced when the liver processes waste products).

Diagnosis

This extremely rare syndrome is usually diagnosed by jaundice testing shortly after birth. Factors which lead to a suspicion of the disease are a family history of Crigler-Najjar syndrome and jaundice (yellow skin or eyes) that persists beyond two weeks without an obvious cause. The condition is marked by confusion and changes in thinking, resulting from the effects of excess bilirubin in the brain. Besides bilirubin tests, other diagnostics may include enzyme assays (another blood test) or liver biopsies.

Treatment

Children with CNS are unable to eliminate bilirubin from their bodies. Blood transfusions are used to eliminate excess bilirubin. Long-term treatment for this condition is phototherapy in which patients lay under lights for as many as 12 hours per day to break down the bilirubin. Without daily treatments, CNS patients may suffer brain damage, muscle and nerve damage or death due to bilirubin toxicity. Oral calcium phosphate may be used in conjunction with phototherapy. In school-age children, phototherapy may increase to approximately 15 hours a day, which interferes considerably with daily life. In these circumstances, liver transplantation — either whole liver replacement or partial liver transplantation — is the treatment of choice. A variant of the condition (type 2) is less serious and responds to drugs such as phenobarbitone.