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Crigler-Najjar syndrome Causes and Risks:
Crigler-Najjar syndrome is inherited as an autosomal recessive trait. Parents who are carriers of this condition have about half the normal enzyme activity of an unaffected adult. Infants who inherit the trait from both parents (this is called homozygous inheritance) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop kernicterus .
In infants who have inherited an affected gene from each of the parents, the jaundice will persist into adult life and require daily treatment. The constantly elevated levels of bilirubin eventually produce an adult form of kernicterus despite daily treatment.
Prevention:
Genetic counseling is recommended for prospective parents with a family history of Crigler-Najjar syndrome. People who carry the gene can be recognized by blood testing.
Symptoms:
- a family history of Crigler-Najjar syndrome
- yellow skin and eyes ( jaundice ) that begins on the 2nd or 3rd day of life and progressively worsens
- jaundice that persists beyond 2 weeks without an obvious cause
- confusion (resulting from brain damage)
Signs and Tests:
Tests used to evaluate the liver function include:
Treatment:
Phototherapy is needed on an ongoing basis throughout life. In infants this is done using bilirubin lights (bili lights). Cholestyramine, oral may be given to bind bile salts and remove them from circulation within the liver.
Liver transplantation may be considered for some people with this disorder.
Prognosis:
Affected individuals who reach adulthood will develop kernicterus despite ongoing treatment. The life expectancy is about 30 years old.
Complications:
Call Your Healthcare Provider:
Call for an appointment with your health care provider, about genetic counseling if you are expectant parents and have a family history of Crigler-Najjar.
Call your health care provider if your newborn infant has prolonged jaundice .
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