Wilson disease all are true except –
**Core Concept**
Wilson disease, also known as hepatolenticular degeneration, is a rare genetic disorder characterized by excessive accumulation of copper in the body, particularly in the liver, brain, and other vital organs. This accumulation leads to oxidative stress, inflammation, and ultimately, tissue damage. The underlying defect is a mutation in the ATP7B gene, which codes for a copper-transporting P-type ATPase responsible for regulating copper levels in the liver.
**Why the Correct Answer is Right**
The correct answer is related to the pathophysiology of Wilson disease. The disease is caused by a mutation in the ATP7B gene, which leads to impaired copper excretion in the bile. As a result, copper accumulates in the liver, causing damage to hepatocytes and eventually leading to liver cirrhosis and fibrosis. The ATP7B protein plays a crucial role in regulating the expression of the copper-transporting protein ATP7A, which is essential for maintaining normal copper levels in the body.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because Wilson disease is not caused by a deficiency of copper in the diet. In fact, patients with Wilson disease often have elevated copper levels in their blood and tissues.
* **Option B:** This option is incorrect because the diagnosis of Wilson disease is typically made based on a combination of clinical findings, laboratory tests, and genetic analysis, not just on a single biomarker such as ceruloplasmin levels.
* **Option C:** This option is incorrect because the treatment of Wilson disease involves chelation therapy with agents such as penicillamine or trientine to remove excess copper from the body, not just dietary changes.
**Clinical Pearl / High-Yield Fact**
Wilson disease is a classic example of a genetic disorder that can be diagnosed and treated with a combination of clinical, laboratory, and genetic approaches. Early diagnosis and treatment can significantly improve outcomes and prevent long-term complications.
**Correct Answer: A. Wilson disease is not caused by a deficiency of copper in the diet.**