Wilson’s disease is characterized by –
**Question:** Wilson's disease is characterized by -
A. Kayser-Fleischer rings
B. Copper accumulation in liver and brain
C. Psychiatric symptoms
D. Hepatic cirrhosis
**Core Concept:**
Wilson's disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase protein (ATP7B) important for copper homeostasis. This leads to copper accumulation in various tissues, particularly the liver and brain, causing systemic and neurological symptoms.
**Why the Correct Answer is Right:**
Wilson's disease is characterized by copper accumulation due to mutations in ATP7B gene. The primary manifestations include:
1. **A. Kayser-Fleischer rings:** Circular brownish-copper colored discoloration of the cornea, a result of copper accumulation in the corneal epithelium.
2. **B. Copper accumulation in liver and brain:** Copper overload leads to liver damage and neurodegeneration, causing hepatic and neurological symptoms.
**Why Each Wrong Option is Incorrect:**
3. **C. Psychiatric symptoms:** While psychiatric manifestations are common in Wilson's disease, they are not exclusive to this condition. Other psychiatric disorders can present similarly, making this answer less specific.
4. **D. Hepatic cirrhosis:** Wilson's disease can cause liver disease, but the primary manifestation is copper accumulation, not cirrhosis, which is a later stage of liver disease. Cirrhosis is a nonspecific endpoint of various liver diseases and not a unique feature of Wilson's disease.
**Core Concept:**
Copper accumulation in Wilson's disease is a result of mutations in ATP7B gene, leading to impaired copper excretion and accumulation within hepatocytes and neurons.
**Why the Correct Answer is Right:**
Wilson's disease presents with Kayser-Fleischer rings and copper accumulation in the liver and brain due to the following reasons:
1. **A. Kayser-Fleischer rings:** These are copper-induced discoloration of the cornea, caused by copper accumulation in the corneal epithelium.
2. **B. Copper accumulation in liver and brain:** Copper overload leads to neurodegeneration and liver damage, causing the characteristic clinical features.
**Why Each Wrong Option is Incorrect:**
3. **C. Psychiatric symptoms:** Although psychiatric manifestations are common, they are not exclusive to Wilson's disease. Psychiatric symptoms can be seen in various other conditions as well, making this answer less specific.
4. **D. Hepatic cirrhosis:** Wilson's disease can cause liver disease, but cirrhosis is a later stage of liver disease, not a unique feature of Wilson's disease. Wilson's disease primarily presents with Kayser-Fleischer rings and copper accumulation in the liver and brain due to mutations in the ATP7B gene. These mutations lead to impaired copper excretion and accumulation of copper within hepatocytes and neurons, causing characteristic clinical features.