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Crigler-Najjar syndrome

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

 

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

Causes

 

Crigler-Najjar syndrome occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. 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.

Type I Crigler-Najjar is the form of the disease that starts early in life. Type II Crigler-Najjar syndrome starts later in life.

The syndrome runs in families (inherited). A child must receive a copy of 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, but DO NOT have symptoms.

 

Symptoms

 

Symptoms may include:

  • 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
  • Lethargy
  • Poor feeding
  • Vomiting

 

Exams and Tests

 

Tests of liver function include:

  • Conjugated (bound) bilirubin
  • Total bilirubin level
  • Unconjugated (unbound) bilirubin in blood.
  • Enzyme assay
  • Liver biopsy

 

Treatment

 

Light treatment (phototherapy) is needed throughout a person's life. In infants, this is done using bilirubin lights (bili or 'blue' lights). Phototherapy does not work as well after age 4, because thickened skin blocks the light.

A liver transplant can be done in some people with type I disease.

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

The drug phenobarbitol is sometimes used to treat type II Crigler-Najjar syndrome.

 

Outlook (Prognosis)

 

Milder forms of the disease (type II) DO NOT cause liver damage or changes in thinking during childhood. People who are affected with a mild form still have jaundice, but they have fewer symptoms and less organ damage.

Infants with the severe form of the disease (type I) 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 I disease is 30 years.

 

Possible Complications

 

Possible complications include:

  • A form of brain damage caused by jaundice (kernicterus)
  • Chronic yellow skin/eyes

 

When to Contact a Medical Professional

 

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 people with a family history of Crigler-Najjar syndrome who want to have children. Blood tests can identify people who carry the gene.

 

 

References

Lidofsky SD. Jaundice. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 21.

Menchise AN, Balistreri WF. Metabolic diseases of the liver. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 357.

 
  • Liver anatomy

    Liver anatomy - illustration

    The liver serves a wide variety of body functions, including detoxifying blood and producing bile that aids in digestion.

    Liver anatomy

    illustration

    • Liver anatomy

      Liver anatomy - illustration

      The liver serves a wide variety of body functions, including detoxifying blood and producing bile that aids in digestion.

      Liver anatomy

      illustration

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          Tests for Crigler-Najjar syndrome

           

             

            Review Date: 8/16/2016

            Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics at the University of Alabama, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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