About Crigler-Najjar syndrome

What is Crigler-Najjar syndrome?

Crigler-Najjar syndrome is a rare inherited disorder that affects the liver's ability to break down bilirubin, a yellow pigment that is a byproduct of the breakdown of red blood cells. People with this disorder have very high levels of bilirubin in their blood, which can cause jaundice, anemia, and other serious health problems.

What are the symptoms of Crigler-Najjar syndrome?

The main symptom of Crigler-Najjar syndrome is jaundice, which is a yellowing of the skin and eyes. Other symptoms may include dark urine, pale stools, fatigue, poor appetite, and slow growth. In some cases, seizures, developmental delays, and liver problems may also occur.

What are the causes of Crigler-Najjar syndrome?

Crigler-Najjar syndrome is a rare genetic disorder caused by a mutation in the UGT1A1 gene. This gene is responsible for producing an enzyme called uridine diphosphate glucuronosyltransferase (UGT), which is responsible for breaking down bilirubin in the body. Without this enzyme, bilirubin builds up in the body, leading to jaundice and other symptoms.

What are the treatments for Crigler-Najjar syndrome?

The primary treatment for Crigler-Najjar syndrome is phototherapy, which involves exposing the patient to special fluorescent lights that help break down the bilirubin in the body. Other treatments include medications such as phenobarbital and rifampin, which help the body process bilirubin more efficiently, and a liver transplant, which is the only cure for the condition.

What are the risk factors for Crigler-Najjar syndrome?

The primary risk factor for Crigler-Najjar syndrome is a genetic mutation in the UGT1A1 gene. This gene is responsible for producing an enzyme that helps the body break down bilirubin. Other risk factors include family history of the condition, ethnicity, and gender.

Is there a cure/medications for Crigler-Najjar syndrome?

Yes, there are treatments available for Crigler-Najjar syndrome. These include phototherapy, medications such as phenobarbital and phenytoin, and liver transplantation.