In Wilson disease, which of the following is seen?
**Core Concept**
Wilson disease is a genetic disorder characterized by an accumulation of copper in the body, particularly in the liver, brain, and other organs. This accumulation occurs due to a defect in the ATP7B gene, which codes for a copper-transporting ATPase responsible for regulating copper levels in the body.
**Why the Correct Answer is Right**
The correct answer is related to the pathophysiology of Wilson disease. In Wilson disease, there is an impaired ability to excrete copper into the bile, leading to its accumulation in the liver. This results in liver damage, as well as the deposition of copper in the brain, which can cause neurological symptoms. The ATP7B protein plays a crucial role in regulating the transport of copper into the bile, and mutations in this gene lead to the accumulation of copper in the body.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because it does not accurately describe a feature of Wilson disease.
* **Option B:** This option is incorrect because it is more commonly associated with another condition, such as primary biliary cirrhosis.
* **Option C:** This option is incorrect because it is not a specific feature of Wilson disease.
**Clinical Pearl / High-Yield Fact**
Wilson disease can be treated with chelating agents, such as penicillamine, which help to remove excess copper from the body. However, long-term treatment with these agents requires careful monitoring to avoid adverse effects.
**Correct Answer:** C. Kayser-Fleischer rings are a hallmark of Wilson disease.