Wilson disease is due to accumulation of: September 2005
Correct Answer: Copper
Description: Ans. A: Copper In Wilson disease, main sites of copper accumulation are the liver and the brain, and consequently liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis. Liver disease may present as tiredness, increased bleeding tendency or confusion (due to hepatic encephalopathy) and poal hypeension. On examination, signs of chronic liver disease such as spider naevi (small distended blood vessels, usually on the chest) may be observed. Chronic active hepatitis has caused cirrhosis of the liver in most patients by the time they develop symptoms. About 5% of all patients are diagnosed only when they develop fulminant acute liver failure, often in the context of a hemolytic anemia. About half the patients with Wilson's have neurological or psychiatric problems. Specific neurological symptoms then follow, often in the form of parkinsonism (increased rigidity and slowing of routine movements) with or without a typical hand tremor, masked facial expressions, slurred speech, ataxia (lack of coordination) or dystonia (twisting and repetitive movements of pa of the body). Various medical conditions have been linked with copper accumulation in Wilson's disease: Eyes: Kayser-Fleischer rings (KF rings) may be visible around the iris. They are due to copper deposition in Descemet's membrane of the cornea. They do not occur in all patients and may only be visible on slit lamp examination. Wilson's disease is also associated with sunflower cataracts, brown or green pigmentation of the anterior and posterior lens capsule. Kidneys: renal tubular acidosis, a disorder of bicarbonate handling by the PCT leads to nephrocalcinosis (calcium accumulation in the kidneys), weakening of the bone (due to calcium and phosphate loss) and occasionally aminoaciduria. Hea: cardiomyopathy and arrythmias Hormones: hypoparathyroidism, infeility and habitual aboion.
Category:
Pathology
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