The genetic cause of Wilson’s disease.

General
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Wilson’s disease is a rare genetic disorder in which the body cannot properly eliminate copper, leading to its accumulation in the liver, brain, and other organs.

Cause: It is caused Wilson’s disease is caused by a mutation in the ATP7B gene, which normally helps remove excess copper from the liver into bile. Because of this defect, copper gradually accumulates in the liver, brain, kidneys, and eyes, causing damage to these organs. The condition is inherited in an autosomal recessive pattern, meaning a person must inherit the defective gene from both parents to develop the disease.

Symptoms:
Wilson’s disease usually appears in childhood or early adulthood and can affect the liver, nervous system, and eyes. Liver-related symptoms include fatigue, jaundice, abdominal swelling, and easy bruising. Neurological problems may appear as tremors, difficulty speaking, poor coordination, and personality changes. A characteristic eye sign, called the Kayser-Fleischer ring, appears as a brownish or greenish ring around the cornea due to copper deposits.

Complications:

  • Liver failure

  • Cirrhosis

  • Neurological problems

  • Psychiatric symptoms

Treatment:

  • Chelating agents (e.g., D-penicillamine, trientine) to remove excess copper

  • Zinc therapy to block copper absorption

  • Liver transplant in severe cases

MBH/AB

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That is a clear summary! To put it simply, Wilson’s disease is an uncommon but deadly disorder in which copper gradually accumulates in the body and affects essential organs. The good news is that with early detection and ongoing treatment via drugs that remove or block copper many individuals can live healthy, normal lives.

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Wilson’s disease is a good example of how a single genetic mutation can disrupt metal metabolism and affect multiple organs. Early detection is crucial, especially spotting Kayser-Fleischer rings or subtle neurological signs, because timely treatment with chelators or zinc can prevent serious complications.

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Also worth mentioning: genetic testing for ATP7B mutations now allows early screening of at-risk family members, even before symptoms appear. Lifelong follow-up with liver function tests, copper levels, and neurological assessments helps in tailoring treatment and preventing complications.

Recent research is exploring gene therapy as a future option to correct the underlying genetic defect, which could be a game-changer in managing this condition.