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Crigler-Najjar syndrome

Crigler-Najjar syndrome is a very rare inherited disorder in which bilirubin (a substance made by the liver) cannot be broken down.

  • Alternative Names

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

  • Causes, incidence, and risk factors

    Crigler-Najjar syndrome is caused by an abnormal gene. The gene fails to make the enzyme that normally converts 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 jaundice (yellow discoloration of skin and eyes) and damage to the brain, muscles, and nerves.

    Crigler-Najjar (type 1) is the early-onset form of the disease. Arias syndrome (type 2) is a later-onset condition.

    The syndrome runs in families (inherited). A child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the enzyme activity of a normal adult.

  • Symptoms
    • Confusion and changes in thinking
    • Yellow skin (jaundice) and yellow in the whites of the eyes (icterus), which begin a few days after birth and get worse over time
  • Signs and tests

    Tests used to evaluate liver function include:

  • Treatment

    Light treatment (phototherapy) is needed on a regular basis throughout life. In infants this is done using bilirubin lights (bili or 'blue' lights). Phototherapy becomes less successful after age 4, because thickened skin blocks the light.

    Liver transplantation has been used successfully in some people with type 1 disease.

    Blood transfusions may help control the amount of bilirubin in blood plasma. Calcium compounds are sometimes used to bind with and remove bilirubin in the gut.

    The drug phenobarbitol is sometimes used to treat Arias syndrome (type 2).

  • Expectations (prognosis)

    Milder forms of the disease (type 2) do not cause severe toxicity, liver damage, or changes in thinking during childhood. People affected still have jaundice, but they have fewer symptoms and less organ damage.

    Infants with the severe form of the disease (type 1) may continue to have jaundice into adulthood, and may need daily treatment. If left untreated, this severe form of the disease will lead to death in childhood.

    People with this condition who reach adulthood will develop brain damage due to jaundice (kernicterus), even with regular treatment. The life expectancy for type 1 disease is 30 years.

  • Complications

    Possible complications include:

    • A form of brain damage caused by jaundice (kernicterus)
    • Chronic yellow skin/eyes
  • Calling your health care provider

    Seek genetic counseling if you are planning to have children and have a family history of Crigler-Najjar.

    Call your health care provider if you or your newborn infant has jaundice that does not go away.

  • Prevention

    Genetic counseling is recommended for prospective parents with a family history of Crigler-Najjar syndrome. Blood testing can identify people who carry the gene.

  • References

    Carey RG, Balistreri WF. Metabolic Diseases of the Liver. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 354.

Review Date: 8/7/2008

Reviewed By: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2014 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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