Crigler-Najjar syndrome synonyms
What other names are the Crigler-Najjar syndrome known by? Synonyms and other terms with which Crigler-Najjar syndrome is known.
Crigler-Najjar syndrome is a rare genetic disorder characterized by the body's inability to properly process a substance called bilirubin. Bilirubin is a yellow pigment that is produced when red blood cells are broken down. In individuals with Crigler-Najjar syndrome, a specific enzyme called UDP-glucuronosyltransferase is either missing or not functioning correctly, leading to the accumulation of unconjugated bilirubin in the blood.
Unconjugated bilirubin is not water-soluble and cannot be easily excreted from the body. As a result, it can build up in various tissues, including the brain, causing a range of symptoms. The most notable symptom of Crigler-Najjar syndrome is jaundice, which is characterized by yellowing of the skin and eyes. Other symptoms may include fatigue, abdominal pain, and an enlarged spleen.
There are two types of Crigler-Najjar syndrome: type 1 and type 2. Type 1 is the more severe form and is typically diagnosed in infancy. Individuals with type 1 Crigler-Najjar syndrome have almost no UDP-glucuronosyltransferase activity and require lifelong treatment to prevent bilirubin toxicity. Type 2 is a milder form of the condition, with some residual enzyme activity. Symptoms may be less severe and may not appear until later in childhood or adulthood.
Treatment for Crigler-Najjar syndrome primarily focuses on managing bilirubin levels. Phototherapy, which involves exposing the skin to special lights, is commonly used to help break down bilirubin and reduce its levels in the blood. In severe cases, liver transplantation may be necessary to provide a functioning enzyme source. Regular monitoring and follow-up care are essential to prevent complications associated with high bilirubin levels.
In conclusion, Crigler-Najjar syndrome is a rare genetic disorder characterized by the body's inability to process bilirubin properly. It can lead to jaundice and other symptoms, and there are two types of the condition. Treatment involves managing bilirubin levels through phototherapy and, in severe cases, liver transplantation.
