Wilson syndrome

Wilson's syndrome, also known as Wilson's disease, is a rare autosomal recessive genetic disorder characterized by excessive copper accumulation in the body. It is named after Dr. Samuel Alexander Kinnier Wilson, the British neurologist who first described the condition in 1912.

Etiology

Wilson's syndrome is caused by mutations in the ATP7B gene, which is responsible for encoding a protein that plays a crucial role in copper transport and elimination. The mutations lead to impaired function of this protein, resulting in abnormal copper accumulation primarily in the liver and brain.

Symptoms

The symptoms of Wilson's syndrome can vary widely among affected individuals, depending on the organs most affected by copper accumulation. Common symptoms include jaundice, fatigue, loss of appetite, abdominal pain, and uncontrolled movements or stiffness. Neurological and psychiatric symptoms such as tremors, difficulty speaking, anxiety, and depression can also occur.

Diagnosis

Diagnosis of Wilson's syndrome involves a combination of clinical findings, biochemical tests, and molecular genetic testing. Biochemical tests typically involve measurement of serum ceruloplasmin and copper levels, while molecular genetic testing involves identification of mutations in the ATP7B gene.

Treatment

Treatment for Wilson's syndrome primarily involves medications that help remove excess copper from the body and prevent its accumulation, such as D-penicillamine and trientine. In severe cases, liver transplantation may be necessary.

Prognosis

With early diagnosis and appropriate treatment, individuals with Wilson's syndrome can lead normal lives. However, if left untreated, the disease can lead to serious health complications such as liver disease, neurological problems, and psychiatric disorders.

See also

• Copper metabolism
• Genetic disorder
• Hepatology
• Neurology

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External links

• Comprehensive information from the National Institute of health.
  

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