Liver

Question 1

α1 -Antitrypsin deficiency

Answer 1

It is autosomal codominant.
Effect on the liver: accumulation of AAT in hepatocellular endoplasmic reticulum → hepatocyte destruction → hepatitis and liver cirrhosis
Dx:
Serum: decreased antitrypsin protein levels
‣ Electrophoresis: decreased alpha-1 peak
‣ Liver biopsy: PAS-positive, spherical inclusion bodies in periportal hepatocytes
Tx:
Avoid smoking
ANti trypsin replacement

Question 2

Alagille syndrome

Answer 2

genetic autosomal dominant condition that is characterized by intrahepatic biliary duct aplasia or hypoplasia.
Face: flat nose, deep eyes, triangular chin.
Spine: butterfly vertebrae 
Eyes: posterior embryotoxon 
Dx: Liver enzymes
Biopsy: decreased intrahepatic bile duct
Genetic testing 
Tx: supportive

Question 3

Autoimmune Hepatitis

Answer 3

Liver destruction by autoantibodies. More in prepubertal females.
Liver signs and symptoms (maybe Acute or chronic), arthritis,rash, vasculitis and nephritis.
Dx:
High serum transaminase, hypergammaglobinemia, autoantibodies (ANA, ANTI SMOOTH MUSCLE AB)
Tx:
Supportive,corticosteroids,immunosuppressive meds

Question 4

Wilson

Answer 4

Hepatitis
Parkinsonism
Dementia
Kayser-Fleischer ring

-Autosomal recessive

Labs
↑ Transaminases
↓ Serum ceruloplasmin (normal value > 20 mg/dL)
↑ Free serum copper, but ↓ total serum copper

MRI: face of gaunt panda

Tx:
Low copper diet
Chelating agent (penicillamineside)