First Aid 373-375 GI last of it

Question 1

recessive mutation in an ATPase leads to which GI disease?

Answer 1

Wilson disease - hepatocyte CU transporting ATPase

Question 2

Chromosome # of Wilson’s

Answer 2

13

Question 3

Chromosome # and HLA # of Hemochromatosis?

Answer 3

chr 6, HLA A3

Question 4

Which mem of cornea is CU deposition?

Answer 4

Descemet membrane

Question 5

Tx of Wilsons?

Answer 5

penacillamine, trientine, oral zinc

Question 6

Blood and urine signs of Wilson’s

Answer 6

 serum ceruloplasmin,  urine copper

Question 7

Presentation of Wilson’s

Answer 7

Presents before age 40 with liver disease (eg, hepatitis, acute liver failure, cirrhosis), neurologic
disease (eg, dysarthria, dystonia, tremor, parkinsonism), psychiatric disease, Kayser-Fleischer rings
(deposits in Descemet membrane of cornea) A , hemolytic anemia, renal disease (eg, Fanconi
syndrome).

Question 8

How can one detect Hemochromatosis? (tests)

Answer 8

Hemosiderin (iron) can be identified on liver MRI or

biopsy with Prussian blue stain

Question 9

What cardiac and reproductive issues with Hemochromatosis?

Answer 9

dilated cardiomyopathy (reversible), hypogonadism

Question 10

In terms of hemochromatosis, what is the arthropathy caused by? which joints in particular?

Answer 10

Calcium pyrophosphate deposition especially metacarpophalangeal joints

Question 11

Most common cause of death in hemochromatosis?

Answer 11

HCC

Question 12

Sx of biliary tract disease?

Answer 12

May present with pruritus, jaundice, dark urine, light-colored stool, hepatosplenomegaly

Question 13

Which biliary disease is associated with UC?

Answer 13

PSC

Question 14

Complication of PSC?

Answer 14

Can lead to 2° biliary cirrhosis.  risk of cholangiocarcinoma and gallbladder cancer.

Question 15

alternating strictures and dilation with

“beading” of intra- and extrahepatic bile ducts on ERCP

Answer 15

Primary sclerosing

cholangitis

Question 16

Which biliary disease assoc with inc IgM?

Answer 16

PSC and PBC

Question 17

What disease can make secondary biliary cirrhosis worse?

Answer 17

May be complicated by

ascending cholangitis.

Question 18

Which ducts are involved in each biliary tract disease?

Answer 18

PSC - intra and extra hepatic bile ducts
PBC - intralobular bile ducts
SBC - intrahepatic bile ducts

Question 19

Which biliary disease involves fibrosis of intrahepatic ducts?

Answer 19

Both PSC and SBC

Question 20

Which biliary disease = granulomas?

Answer 20

PBC

Question 21

Radioluscent gallstones?

Answer 21

Cholesterol stones and Brown pigemnt stones

Question 22

Most common type of gallstone?

Answer 22

Chol stones

Question 23

Patients assoc with pigment stones?

Answer 23

seen in patients with Crohn
disease, chronic hemolysis, alcoholic
cirrhosis, advanced age, biliary infections,
total parenteral nutrition (TPN).

Question 24

Most common complication of cholecystitis?

Answer 24

acute pancreatitis, ascending cholangitis.

Question 25

What hormone can trigger biliary colic?

Answer 25

CCK

Question 26

Explain how illeus can happen with gallstones?

Answer 26

Can cause fistula between gallbladder and gastrointestinal tract Ž air in biliary tree (pneumobilia) Ž passage of gallstones into intestinal tract Ž obstruction of ileocecal valve (gallstone ileus).

Question 27

What viral infection assoc with cholecystitis?

Answer 27

CMV

Question 28

When can cholecystitis present with inc ALP?

Answer 28

 ALP if bile duct becomes involved (eg, ascending cholangitis).

Question 29

Drugs that increase risk of gallstones?

Answer 29

Fibrates

Question 30

Diseases that increase risk of gallstones?

Answer 30

Acute pancreatitis, Clonorchis sinensis, Somatostatinoma, crohn's