Which of the following statements about Wilson’s disease is true
Now, the correct answer is about the treatment. Penicillamine is a chelating agent used to bind copper and promote its excretion. So the correct statement would be that penicillamine is a first-line treatment. Let me check the options again. The user didn't list them, but the correct answer given is probably option B or something similar.
For the wrong options, common misconceptions might include using zinc as a first-line treatment (but zinc is actually used in maintenance), or maybe stating that Kayser-Fleischer rings are found in the cornea (they're actually in the Descemet's membrane of the cornea). Another wrong option could be about the inheritance pattern being autosomal dominant instead of recessive.
The clinical pearl here is that early diagnosis and treatment with chelating agents like penicillamine or trientine can prevent complications. Also, Kayser-Fleischer rings are a key diagnostic sign. I should make sure to mention the ATP7B gene and the chelation therapy in the explanation.
**Core Concept** Wilson's disease is an autosomal recessive disorder caused by mutations in the **ATP7B gene**, impairing copper excretion via bile. This leads to systemic copper accumulation, primarily in the liver, basal ganglia, and cornea.
**Why the Correct Answer is Right** The correct statement is **"Penicillamine is a chelating agent used to treat Wilson's disease."** Penicillamine binds excess copper in the bloodstream, forming soluble complexes excreted in urine. It is a first-line therapy alongside trientine, reducing tissue copper levels and preventing neurologic/psychiatric complications.
**Why Each Wrong Option is Incorrect**
**Option A:** *"Zinc acetate is the first-line treatment"* is incorrect because zinc induces metallothionein to block intestinal copper absorption but is used as **maintenance therapy**, not initial treatment.
**Option C:** *"Kayser-Fleischer rings are diagnostic for hemochromatosis"* is false; these corneal rings are pathognomonic for **Wilson’s disease**, not hemochromatosis.
**Option D:** *"Inheritance is autosomal dominant"* is wrong; Wilson’s disease follows **autosomal recessive** inheritance.
**Clinical Pearl / High-Yield Fact** Always associate **Kayser-Fleischer rings** with Wilson’s disease on exams. Remember: **Penicillamine and trientine** are chelators (acute), while **zinc** is for long-term prevention. Early treatment prevents irreversible liver or brain damage.
**Correct Answer: B. Penicillamine is a chelating agent used to treat Wilson's disease.**