metabolic and autoimmune Flashcards
3 metabolic/genetic diseases
- Alpha-1 anti trypsin
- Wilson’s
- hemochromatosis
features of genetic diseases
- inherited
- injury not primarily due to inflammation
- extrahepatic disease
defect, consequence, extra-hepatic effects, acute sx, diagnosis, treatment of A1AT
defect- misfolded protein
consequence- protein retained in ER of hepatocyte - or lung
extra hepatic - unopposed elastase activity in lung
- storage disease in liver
acute - none
diagnosis - A1AT serum levels, electrophoresis
treatment - none
defect, consequence, extra-hepatic effects, acute sx, diagnosis, treatment of wilsons
defect- mutations in Cu transported
consequence- cu can’t pass from cytoplasm to ER and to bile canaliculi for excretion- over load
extra hepatic - cu in brain
acute - can lead to massive necrosis
diagnosis - - incresed urine cu, penicillimine challange (chelates), liver biopsy
treatment - chelate
defect, consequence, extra-hepatic effects, acute sx, diagnosis, treatment of hemochoromatisis
defect- mutations in HFE gene
consequence- impaired regulation of Fe absorb in duodenum- always think deficient
- impaired production of hepcidin in liver
extra hepatic - Fe in skiin, pancreas, pit/gonads, heart
acute - none
diagnosis - high Fe sat., high ferritin, biopsy
treatment - , ph;ebotomy, chelate
normal liver regualtion
ferroportin is major export protein to put into blood
- hepcidin produced in liver
- binds to and degrades ferroportin
when is hepcidin incr. and decreased
incr - infecions, inflammation
dec - anemia, hypoxia, mutation
appearance of hemochromatosis
orange-brown liver
- intractyoplasmic brown granules
3 autoimmune liver dieases
- autoimmune hepatitis
- primary biliary cirrhosis
- primary sclerosing cholangitis
area involved, consequence, markers, biopsy, imaging, treatment of AIH
area- hepatocytes consquence- hepatitis markers - ANA, SMA, LKM biopsy- lobular formations imaging - NA treatment - prednisone, imuran
area involved, consequence, markers, biopsy, imaging, treatment of PBC
area- microscopic bile ducts consquence- cholestasis markers - AMA, IgM biopsy- duct lesion, granuloma imaging - NA treatment - uro. acid
area involved, consequence, markers, biopsy, imaging, treatment of PSC
area- macroscopic bile ducts consquence- cholestasis markers - P-ANSA biopsy- onion skin imaging - bile duct strictures treatment - none
what is seen in auto immune hepatitis
- hepaticytes show swellin and inflammation
- giant cells
- sone 3 necroinflammatory activity
what is seen in PBC
lymphocytic aggregates are present beside bile ducts
- changes confined to portal boundaries
what is seen in PSC
autoimmune destruction aimed at the CT of in the area of the bile ducts
- ulceration with bilirubin impregnation
