Wilson disease is a rare genetic disorder that affects the body’s ability to process copper. It can lead to the accumulation of copper in various organs, primarily the liver and brain. Wilson disease can occur in children and adults. Here are key points to understand about Wilson disease in children:
Genetic Cause:
- Wilson disease is caused by mutations in the ATP7B gene, which is responsible for regulating the transport of copper in the body. These mutations impair the ability to eliminate excess copper, leading to its buildup.
Copper Accumulation:
- In individuals with Wilson disease, copper accumulates in the liver and is then released into the bloodstream, leading to its deposition in other organs, such as the brain, kidneys, and corneas of the eyes.
Symptoms and Diagnosis:
- Wilson disease can have a wide range of symptoms, which may vary from person to person.
- Common symptoms in children can include fatigue, jaundice (yellowing of the skin and eyes), abdominal pain, vomiting, and hepatomegaly (enlarged liver).
- Neurological symptoms can also occur and may include movement disorders, tremors, and behavioral changes.
- Diagnosis typically involves blood tests to measure copper levels and specialized tests such as a liver biopsy and genetic testing.
Treatment:
- Treatment for Wilson disease involves lifelong management to lower copper levels in the body. It includes:
- Medications: Copper-chelating medications, such as penicillamine and trientine, are used to bind and remove excess copper.
- Zinc: Zinc supplements can be used to block copper absorption from the digestive system.
- Close monitoring of liver function and copper levels is essential during treatment.
Dietary Modifications:
- Individuals with Wilson disease are often advised to follow a low-copper diet, which involves avoiding high-copper foods, such as shellfish, nuts, and chocolate.
Liver Transplant:
- In severe cases where the liver is extensively damaged by copper buildup, liver transplantation may be necessary, especially in children who do not respond well to medication.
Ongoing Monitoring:
- Children with Wilson disease require regular medical check-ups and monitoring of liver function and copper levels to ensure that treatment is effective.
- Adherence to treatment and medical follow-ups is crucial for long-term management.
Prognosis:
- With proper treatment and adherence to medical recommendations, many children with Wilson disease can lead normal lives.
- Early diagnosis and initiation of treatment are essential to prevent irreversible organ damage.
Wilson disease is a lifelong condition that requires careful management to prevent complications related to copper buildup. Regular medical follow-ups and compliance with treatment are crucial for the well-being of affected children. Genetic counseling may also be recommended for families with a history of Wilson disease.