Wilson's disease

Wilson's disease generally refers to Wilson's disease, which is an autosomal recessive genetic disease and an autosomal recessive copper metabolism disorder.

Wilson's disease is a body chemistry abnormality that causes toxic concentrations of copper to accumulate in the liver and brain. Most cases are limited to one generation of siblings or are inherited from the previous generation. It is rare that the disease occurs in two consecutive generations. The disease usually occurs in childhood and adolescence, and a few occur in adulthood. The age of onset is mostly between 5 and 30 years old, and males are slightly more likely to develop than females. The disease progresses slowly with periodic relief or aggravation, and there are also patients with rapid progression. Most neurological symptoms will show decreased attention and memory, intellectual disability, slow reaction, emotional instability, often accompanied by forced laughter or silly laughter, etc. Liver abnormalities will also occur. Some patients will develop acute, subacute or chronic hepatitis, and the progression will be slower. Cirrhosis, splenomegaly or even ascites will be discovered when seeking medical treatment. In severe cases, liver damage will lead to acute liver failure, and the mortality rate will be relatively high.

If the patient feels unwell, he or she needs to go to the hospital for relevant examinations, such as routine blood and urine tests, liver and kidney function tests, brain CT, genetic diagnosis, etc. Patients need to take copper-removing drugs under the guidance of a doctor, such as D-penicillamine, dimercaptopropane sulfonic acid and other drugs.