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The mystery of Wilson's disease: Why does the body accumulate excess copper?
Wilson disease, also known as hepatocerebral degeneration, is an inherited disorder characterized by excessive accumulation of copper in the body. The condition affects primarily the brain and liver, causing a range of confusing and painful symptoms.
Symptoms of Wilson disease are usually related to the brain and liver, and patients may experience liver-related symptoms such as vomiting, fatigue, abdominal swelling, leg swelling, yellowing of the skin, and itching.
According to the study, neurological symptoms include tremors, muscle rigidity, difficulty speaking, personality changes, anxiety and psychosis. Wilson disease is caused by a mutation in the ATP7B gene, which is responsible for transporting excess copper into bile so that it can be excreted from the body in feces. The disease is inherited in an autosomal recessive manner, requiring the affected person to inherit a defective copy of the gene from both parents.
Diagnosis and symptoms
Diagnosing Wilson disease can be challenging and usually requires confirmation through a combination of blood tests, urine tests, and a liver biopsy. Genetic testing can be used to screen family members of an affected person. The prevalence of patients is about 1 in every 30,000 people, and symptoms usually occur between the ages of 5 and 35.
The main symptoms in patients with Wilson disease include liver disease and neuropsychiatric symptoms. Some patients are identified only because a relative has been diagnosed with Wilson disease.
Liver disease and neuropsychiatric symptoms
Liver disease often presents with fatigue, jaundice, bleeding tendency, and confusion, which are often associated with hepatic encephalopathy. Excessive pressure on the liver can lead to esophageal varices and ascites, and common examinations may reveal signs of chronic liver disease such as spider nevi.
About half of people with Wilson disease develop neurological or psychiatric symptoms. It may begin with mild cognitive decline and clumsiness, but as the disease progresses, specific neurological symptoms such as muscle rigidity, slurred speech, a disordered movements, or dystonia may develop.
Effects on eyes, kidneys and other systems
Wilson disease also affects other organ systems, including the eyes, kidneys, heart, and endocrine system. Common copper deposits in the eyes are called Kayser-Fleischer rings, while the kidneys may develop renal tubular acidosis, which leads to calcium deposition problems in the kidneys and osteoporosis. Additionally, the heart may be affected, leading to cardiomyopathy.
Serum copper concentrations are abnormally low in patients with Wilson disease, but urine copper concentrations are usually high, an important diagnostic finding.
Genetics and Pathophysiology
The gene for Wilson disease is located in the ATP7B gene on chromosome 13 and is mainly expressed in the liver, kidneys and placenta. This gene encodes a protein responsible for copper transport and excretion. In Wilson disease, these functions are impaired, leading to excessive accumulation of copper in the liver, which over time can cause hepatitis and an increased risk of cirrhosis.
Treatment methods
Current treatment for Wilson disease includes dietary modification and drug therapy. Patients are usually advised to follow a low-copper diet and avoid using copper cookware.
In terms of medication, the preferred treatment is usually a copper-removing agent, such as penicillamine. For patients who initially present with neurological symptoms, the initial response to drug therapy may be suboptimal and regular monitoring of urinary copper concentrations may be required to adjust the dose.
With knowledge of the cause and appropriate treatment, many people can effectively manage their symptoms and improve their quality of life.
With the improvement of knowledge about Wilson's disease, and the shift away from the negative perception of copper in the past, can we better understand the importance of copper in the body and how to better deal with this complex genetic disease? ?
