First Aid 373-375 GI last of it Flashcards
recessive mutation in an ATPase leads to which GI disease?
Wilson disease - hepatocyte CU transporting ATPase
Chromosome # of Wilson’s
13
Chromosome # and HLA # of Hemochromatosis?
chr 6, HLA A3
Which mem of cornea is CU deposition?
Descemet membrane
Tx of Wilsons?
penacillamine, trientine, oral zinc
Blood and urine signs of Wilson’s
serum ceruloplasmin, urine copper
Presentation of Wilson’s
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).
How can one detect Hemochromatosis? (tests)
Hemosiderin (iron) can be identified on liver MRI or
biopsy with Prussian blue stain
What cardiac and reproductive issues with Hemochromatosis?
dilated cardiomyopathy (reversible), hypogonadism
In terms of hemochromatosis, what is the arthropathy caused by? which joints in particular?
Calcium pyrophosphate deposition especially metacarpophalangeal joints
Most common cause of death in hemochromatosis?
HCC
Sx of biliary tract disease?
May present with pruritus, jaundice, dark urine, light-colored stool, hepatosplenomegaly
Which biliary disease is associated with UC?
PSC
Complication of PSC?
Can lead to 2° biliary cirrhosis. risk of cholangiocarcinoma and gallbladder cancer.
alternating strictures and dilation with
“beading” of intra- and extrahepatic bile ducts on ERCP
Primary sclerosing
cholangitis
Which biliary disease assoc with inc IgM?
PSC and PBC
What disease can make secondary biliary cirrhosis worse?
May be complicated by
ascending cholangitis.
Which ducts are involved in each biliary tract disease?
PSC - intra and extra hepatic bile ducts
PBC - intralobular bile ducts
SBC - intrahepatic bile ducts
Which biliary disease involves fibrosis of intrahepatic ducts?
Both PSC and SBC
Which biliary disease = granulomas?
PBC
Radioluscent gallstones?
Cholesterol stones and Brown pigemnt stones
Most common type of gallstone?
Chol stones
Patients assoc with pigment stones?
seen in patients with Crohn
disease, chronic hemolysis, alcoholic
cirrhosis, advanced age, biliary infections,
total parenteral nutrition (TPN).
Most common complication of cholecystitis?
acute pancreatitis, ascending cholangitis.
What hormone can trigger biliary colic?
CCK
Explain how illeus can happen with gallstones?
Can cause fistula between gallbladder and
gastrointestinal tract air in biliary tree
(pneumobilia) passage of gallstones into
intestinal tract obstruction of ileocecal valve
(gallstone ileus).
What viral infection assoc with cholecystitis?
CMV
When can cholecystitis present with inc ALP?
ALP if bile duct becomes involved (eg, ascending cholangitis).
Drugs that increase risk of gallstones?
Fibrates
Diseases that increase risk of gallstones?
Acute pancreatitis, Clonorchis sinensis, Somatostatinoma, crohn’s
