Hepato biliary

Question 1

HLA DR3 and DR4

Answer 1

Type 1 Autoimmune hepatitis (AIH) disease

- also positive for Antinuclear antibody (ANA) or anti-smooth muscle antibody (ASMA) or both

Question 2

HLA DR7

Answer 2

Type 2 AIH

- positive for Anti-Liver Kidney Microsomal (AKLM) antibody

Question 3

What disease has the genetic defect in ATP7B gene on chromosome 13q

Answer 3

Wilson Disease [Hepatolenticulate Degeneration]

- P-type copper-dependent ATPase

Question 4

Autosomal co-dorminant disease resulting from defects in the SERPINA1 gene (chr. 14q)

Answer 4

Alpha 1-Antitrypsin Def.

- common in Northern european descents

Question 5

Pathogenesis of HHC

Answer 5

Localized at chr. 6p:
Two mutations:
- Tyrosine substitution for cysteine at 282 amino acid position (C282Y) (80-90%). Inheritence of 2 copies of the major disease results in disease.
- Aspartate substitution for histidine at the 63 amino acid position (H63D)(4%). Inheritence of one copy of mutated gene results in disease.