Crigler-Najjar syndrome
Crigler-Najjar syndrome (pronounced: Krig-ler Naj-jar) is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells. The syndrome is characterized by nonhemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in infants.
Etymology
The syndrome is named after the American pediatricians John Fielding Crigler (1919–2013) and Victor Assad Najjar (1914–2002), who first described it in 1952.
Types
There are two types of Crigler-Najjar syndrome, type I and type II.
- Crigler-Najjar syndrome type I is a severe form of the disease. Infants with this type have a high level of bilirubin in their blood (hyperbilirubinemia) and can develop kernicterus, a form of brain damage caused by high levels of bilirubin.
- Crigler-Najjar syndrome type II is a less severe form of the disease. People with this type can have mild jaundice throughout their life, but are less likely to develop kernicterus.
Symptoms
The main symptom of Crigler-Najjar syndrome is jaundice, which is a yellowing of the skin and whites of the eyes. This is due to the high levels of bilirubin in the blood. Other symptoms can include fatigue, abdominal pain, and weight loss.
Causes
Crigler-Najjar syndrome is caused by mutations in the UGT1A1 gene. This gene provides instructions for making an enzyme that is critical for the body's ability to process bilirubin. Mutations in the UGT1A1 gene reduce or eliminate the function of this enzyme, leading to the buildup of bilirubin in the body.
Treatment
Treatment for Crigler-Najjar syndrome typically involves phototherapy to lower the bilirubin levels in the blood. In severe cases, a liver transplant may be necessary.
See also
References
External links
- Medical encyclopedia article on Crigler-Najjar syndrome
- Wikipedia's article - Crigler-Najjar syndrome
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