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Medicine Disorder of Metabolism & Connective Tissue ca87050f

All of the features of Wilson's disease, EXCEPT:

A
Haemolytic anaemia
B
Testicular atrophy
C
Chorea
D
Chronic active hepatitis
High-Yield Explanation
Ans. is 'b' Testicular atrophy Basic defect in Wilson's disease is|Reduced biliary exception of copper*|Cu accumulates in hepatocytes resulting in liver damage (Manifest almost all types of hepatitis* including fulminant hepatitis)|Liver cells get saturated with Cu|Cu spilled in plasma|Gets deposited in following organsBasal ganglia - Spasticity, Rigidity, Chorea (dysphagia, dysarthria, positive Babinski, abdominal reflex absent).Eye - Kayser Fleischer ring* present in descemet's membrane* of cornea.Some frequently asked facts about Wilson's diseaseAssociated with Coombs (-ve) hemolytic anemia*Sensory symptoms are characteristically absent*Testis never involved*Ceruloplasmin deficiency is important marker of disease*

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