Crigler-Najjar syndrome Save
ICD-10 code: E80.5
Chapter: Endocrine, nutritional and metabolic diseases
Crigler-Najjar Syndrome: A Rare Genetic Disorder
Crigler-Najjar Syndrome (CNS) is a rare genetic disorder that affects the liver's ability to process bilirubin, a yellow pigment produced during the breakdown of red blood cells. Bilirubin is normally processed and eliminated from the body, but individuals with CNS have a deficiency in the enzyme responsible for this process, leading to an accumulation of bilirubin in the blood.
CNS is divided into two types: Type 1 and Type 2. Type 1 CNS is the more severe form and is characterized by complete deficiency of the enzyme. Type 2 CNS is a milder form, with partial deficiency of the enzyme.
The main symptom of CNS is jaundice, a yellowing of the skin and eyes. Other symptoms may include fatigue, abdominal pain, and a decreased appetite. If left untreated, CNS can lead to kernicterus, a rare but serious complication that can cause brain damage and other neurological problems.
Diagnosis of CNS is typically made through a blood test that measures bilirubin levels. Genetic testing may also be used to confirm the diagnosis and determine the specific type of CNS.
Treatment for Crigler-Najjar Syndrome
There is currently no cure for CNS, but treatment can help manage symptoms and prevent complications. Phototherapy, a treatment that uses a special light to break down bilirubin in the blood, is often used to treat CNS. This treatment can be done at home or in a hospital setting.
In severe cases, liver transplantation may be necessary. This procedure involves replacing the diseased liver with a healthy liver from a donor. Liver transplantation can be a highly effective treatment for CNS, but it is a major surgery with significant risks and complications.
Living with Crigler-Najjar Syndrome
Living with CNS can be challenging, but with proper treatment and management, individuals with CNS can lead full and productive lives. It is important for individuals with CNS to avoid triggers that can cause a rise in bilirubin levels, such as fasting, dehydration, and certain medications.
- Regular check-ups with a healthcare provider are important to monitor bilirubin levels and adjust treatment as needed.
- Avoiding alcohol and other toxins that can damage the liver is also important.
- Joining a support group and connecting with others who have CNS can provide emotional support and information about managing the condition.
In conclusion, Crigler-Najjar Syndrome is a rare genetic disorder that affects the liver's ability to process bilirubin. While there is no cure for CNS, treatment can help manage symptoms and prevent complications. With