Resource Library
|
|
|
|||||||||
|
||||||||||
|
Powered by:
 This information is provided by an independent source. Merck & Co., Inc. is not responsible for this content. Please discuss any and all treatment options with your healthcare professional. The manufacturer of a product generally has the most complete information about that product.
Crigler-Najjar syndromeDefinitionCrigler-Najjar syndrome is a very rare inherited disorder in which bilirubin (a substance made by the liver) cannot be broken down. Alternative NamesGlucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar) CausesCrigler-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
Exams and TestsTests used to evaluate liver function include:
TreatmentThis version of the Encyclopedia has no treatment information. Please discuss any and all treatment options for your condition with your healthcare professional. Outlook (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. Possible ComplicationsPossible complications include:
When to Contact a Medical ProfessionalSeek 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. PreventionGenetic counseling is recommended for prospective parents with a family history of Crigler-Najjar syndrome. Blood testing can identify people who carry the gene. ReferencesCarey 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-
A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited. 
|
||||||||||
