Gene of wilsons disease is –
Correct Answer: ATP7B
Description: Ans. is 'b' i.e., ATP 7B o Wilson disease is an autosomal recessive disorder caused by mutation of the ATP7B gene, resulting in impaired copper excretion into bile & failure to incorporate copper into ceruloplasmin.Wilson diseaseo This autosomal - recessive disorder is marked by the accumulation of toxic levels of copper in many tissues and organs, principally the liver, brain and eye.Clinical features of Wilson's disease-Organs involvedSymptoms producedHepatico The liver often bears the brunt of injury' in wilson disease with hepatic changes ranging from relatively minor to massive damage which are - Fatty change, acute hepatitis, chronic hepatitis, cirrhosis, massive liver necrosis (acute fulminant hepatitis),o All forms of hepatitis are seen in wilson s disease (chronic active hepatitis also seen)CN.So In brain, the toxic injury' primarily affects the basal ganglia particularly the putamen which demonstrates atrophy and cavitation.o The involvement of basal ganglia produces extrapyramidal symptoms which are - Dystonia, incoordination, tremor dysphagia, dysarthria, chorea.o Memory loss, migraine headaches and seizures too can occur.o Patients can have difficulty' in concentrating on tasks but cognition is usually not impaired,o Remember that Sensor}- abnormalities and muscular weakness are not seen in this disease.Psychiatrico H/O of behavioral disturbances within five years of the onset of the disease. 3 Features are diverse and include loss of emotional control (temper tantrums, crying bouts) Depression, hyperactivity, loss of sexual inhibition.Occularo Kayser Flescher ring (green to brown deposits in the descmenfs membrane in the cornea)o Sunflower cataractBloodo Hemolytic anemia (in severe hepatic failure hemolytic anemias may occur because large amounts of copper are released. The association of hemolysis and liver disease makes wilson disease likely diagnosis).Otherso Urinary' excretion of glucose, phosphates, amino acids, urates
Category:
Pathology
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