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Genetic and Rare Diseases Information Center (GARD)

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Crigler Najjar syndrome, type 2


Other Names for this Disease

  • Crigler-Najjar syndrome, type II
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Your Question

I have been having very bad upper stomach pains and wanted to know if any of the pains are coming from the Crigler Najjar syndrome, type 2 that I have? I’ve been experiencing this pain for two months.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Crigler Najjar syndrome, type 2?

Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice).[1] This condition is less severe than the type 1 form, however the severity of type II can vary greatly. Almost all patients with Crigler Najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). In general people with type 2 Crigler Najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dL.[2] Phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels.
Last updated: 1/19/2011

Does Crigler Najjar syndrome, type 2 cause abdominal pain in affected adults?

Symptoms of Crigler Najjar syndrome, type 2 are related to elevated levels of bilirubin in the body. The levels of bilirubin in affected persons (both children and adult) can vary throughout life, particularly during periods of illness, dehydration, or stress. Elevated bilirubin causes jaundice. Abdominal pain can be associated with jaundice.[1][2][3] People with jaundice and persisting or worsening abdominal pain should seek immediate help from their health care provider.
Last updated: 1/19/2011

How might Crigler Najjar syndrome, type 2 be treated?

Treatment for Crigler Najjar syndrome, type 2 is based on trying to reduce bilirubin levels. As a result it is commonly treated with aggressive phototherapy and phenobarbitol. For severe disease, calcium gluconate, intravenous fluids, and albumin may be recommended. Severely affected patients have been treated with plasmapheresis and even liver transplantation. These options may be most relevant for individuals with the more severe type I disease. In type II disease, much of the literature supports that long-term reduction in serum bilirubin levels can be achieved with continued administration of phenobarbital.[1][2][3] We recommend that you continue to work closely with your primary health care provider in monitoring your bilirubin levels and the effectiveness of the prescribed therapy.
Last updated: 1/19/2011

References
Other Names for this Disease
  • Crigler-Najjar syndrome, type II
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.