Which of the following is false about Wilson’s disease
**Wilson's Disease**
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### Core Concept
Wilson's disease is a genetic disorder characterized by excessive accumulation of copper in the body, particularly in the liver, brain, and other vital organs. This occurs due to mutations in the ATP7B gene, which plays a crucial role in regulating copper transport and excretion. The disease leads to copper toxicity, causing damage to liver cells, brain tissue, and other organs.
### Why the Correct Answer is Right
The correct answer will be identified by examining the provided options and determining which statement is false about Wilson's disease. Wilson's disease is indeed characterized by:
* **Kayser-Fleischer rings**, a hallmark sign of copper accumulation in the cornea.
* **Hepatolenticular degeneration** of the liver and brain.
* **Mutations in the ATP7B gene**, responsible for impaired copper transport and excretion.
* **Intravenous penicillamine** as a treatment option to remove excess copper.
### Why Each Wrong Option is Incorrect
**Option A:** Wilson's disease is caused by a deficiency of ATP7B gene. **Incorrect because** Wilson's disease is caused by mutations in the ATP7B gene, not a deficiency.
**Option B:** Wilson's disease is primarily associated with iron overload. **Incorrect because** Wilson's disease is primarily associated with copper accumulation, not iron overload.
**Option C:** Wilson's disease can be treated with oral zinc therapy. **Incorrect because** oral zinc therapy is not a standard treatment for Wilson's disease; instead, chelating agents like penicillamine or trientine are used.
**Option D:** Wilson's disease is characterized by the presence of Kayser-Fleischer rings. **Incorrect because** this statement is true.
### Clinical Pearl / High-Yield Fact
Wilson's disease is often diagnosed in the second or third decade of life, but it can also present in childhood. Early diagnosis and treatment are crucial to prevent liver and brain damage.
### Correct Answer: D.