All of the following are features of Wilson’s disease,except –
**Question:** All of the following are features of Wilson's disease, except -
A. Hepatic copper accumulation
B. Psychiatric symptoms
C. Pyridoxine responsiveness
D. Hepatosplenomegaly
**Core Concept:**
Wilson's disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, which leads to copper overload in the liver, brain, and other organs. Copper accumulation results in liver dysfunction, psychiatric symptoms, and neurological complications. Wilson's disease is characterized by hepatosplenomegaly, which refers to the enlargement of the liver and spleen due to copper accumulation. Pyridoxine responsiveness, on the other hand, is not a feature of Wilson's disease, as it is a condition characterized by copper overload, not copper deficiency.
**Why the Correct Answer is Right:**
Pyridoxine (vitamin B6) is involved in the synthesis of ceruloplasmin, a copper-binding protein that helps in transporting copper in the bloodstream. In Wilson's disease, copper accumulates in the liver and other tissues due to impaired copper excretion and decreased ceruloplasmin activity. Pyridoxine responsiveness refers to a condition where copper overload is reduced upon administering pyridoxine, which is not the case in Wilson's disease.
**Why Each Wrong Option is Incorrect:**
**A. Hepatosplenomegaly:**
Hepatosplenomegaly is a characteristic feature of Wilson's disease, as it is a result of liver and spleen enlargement due to copper overload.
**B. Psychiatric symptoms:**
Psychiatric symptoms, including depression, anxiety, and psychosis, are a common manifestation of Wilson's disease, caused by copper accumulation in the brain, leading to neuronal damage and dysfunction.
**C. Pyridoxine responsiveness:**
As explained above, Wilson's disease is characterized by copper accumulation, not deficiency, and pyridoxine responsiveness refers to copper overload conditions, not Wilson's disease.
**D. Pyridoxine responsiveness:**
As explained above, Wilson's disease is characterized by copper accumulation, not deficiency, and pyridoxine responsiveness refers to copper overload conditions, not Wilson's disease.
**Clinical Pearl:**
In Wilson's disease, the diagnosis is crucial as it requires specific treatment with liver transplantation or chelation therapy to manage copper overload. Early recognition and diagnosis can prevent serious neurological complications and improve the patient's prognosis.