Metabolic disease of liver

Question 1

Wilson Disease

Answer 1

Copper metabolism - genetic defect of the ATP7B where the copper does not get excreted to the bilary caniculi and depoist in the liver, and unable to have ceruplasm to the plasma

Question 2

Wilson Dx

Answer 2

Question 3

Wilson Dx clinical presentation

Answer 3

copper deposition in the basal gangila

coombs negative hemolytic anemia

Question 4

Wilson Dx prognosis

Answer 4

neurological signs are irrevisble

Question 5

Treatment for wilson dx

Answer 5

After chelation, urine copper should be between 200-500mcg/24 hour

Question 6

Hemochromotosis

Answer 6

all are AR, reduced levels of hepcidin leads to increase iron absorption (no inhibiton for iron uptake)

Type 4 is autosomal dominant *hepcidin is normal, ferroportin gene is afffected*

Question 7

clinical presentation

Answer 7

Question 8

Dx of Hemochromotosis

Answer 8

Question 9

pathology of Hemochromotosis

Answer 9

prussian blue staining iron

Tfr2 is type 4 hemochromotosis

Question 10

treatment for hemochromotosis

Answer 10

cardiomyopathy and diabets can improve

Question 11

Secondary iron overload

Answer 11

chelation

like thalsemmia

Question 12

Alpha1-antitrypsin deficiency

Answer 12

abnormal protein that is accumlated in the liver. PAS staining and diastase resistant in the endoplasmic reticulum

Question 13

Pathology of Alpha 1 tyrpsin

Answer 13