Crigler-Najjar syndrome
Crigler-Najjar syndrome is a very rare inherited disorder in which bilirubin cannot be broken down VSports手机版. Bilirubin is a substance made by the liver.
VSports注册入口 - Causes
An enzyme converts bilirubin into a form that can easily be removed from the body V体育安卓版. Crigler-Najjar syndrome occurs when this enzyme does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to:.
- Jaundice (yellow discoloration of skin and eyes)
- Damage to the brain, muscles, and nerves
Type I Crigler-Najjar is the form of the disease that starts early in life V体育ios版. Type II Crigler-Najjar syndrome may start later in life.
The syndrome runs in families (inherited). A child must receive a copy of the variant gene from both parents to develop the severe form of the condition VSports最新版本. Parents who are carriers (with just one variant gene) have about one half the enzyme activity of a normal adult, but do not have symptoms.
"VSports注册入口" 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 (V体育ios版)
Light treatment (phototherapy) is needed throughout a person's life V体育平台登录. 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 V体育官网入口.
The drug phenobarbitol is sometimes used to treat type II Crigler-Najjar syndrome.
V体育官网入口 - 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 V体育2025版.
Infants with the severe form of the disease (type I) may continue to have jaundice into adulthood, and may need daily treatment. If not treated, this severe form of the disease will lead to death in childhood VSports.
People with this condition who reach adulthood will develop brain damage due to jaundice (kernicterus), even with regular treatment. The life expectancy for someone with type I disease is 30 years.
VSports - Possible Complications
Possible complications include:
- A form of brain damage caused by jaundice (kernicterus)
- Chronic yellow skin/eyes
"VSports在线直播" When to Contact a Medical Professional
Seek genetic counseling if you are planning to have children and have a personal or family history of Crigler-Najjar.
Contact 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 personal or family history of Crigler-Najjar syndrome who want to have children. Blood tests can identify people who carry the genetic variant.
V体育安卓版 - Alternative Names
Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar)
V体育2025版 - Images
VSports最新版本 - References
Bonn J, Balistreri WF. Metabolic diseases of the liver. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 405.
Kaplan M, Wong RJ, Bensen R, Sibley E, Stevenson DK. Neonatal jaundice and liver diseases. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 12th ed. Philadelphia, PA: Elsevier; 2025:chap 95.
Lidofsky SD. Jaundice. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 21.
"VSports注册入口" Review Date 8/18/2024
Updated by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.