Loading....
Coupon Accepted Successfully!

 

Congenital Disorders


Alpha 1 Antitrypsin Deficiency
(Protease inhibitor)
  1. ARQ
    1. αl AT: synthesized by hepatocytes
    2. gene on chromosome 14
    3. Most common genotype Pi MM (90%)
  2. Deficiency (Variants)
    1. Pi S Variant - -↓ S - 1 AT.
    2. PiZZ: 10% of (n)
    3. Pi MZ → intermediate
    4. Pi null → no αl AT
  3. Def.
    1. Variants have defect in movement of secretory protein from ER to golgi apparatus. Q
    2. Mutant Polypeptide: abnormally folded → hindered movement of αl A TZ peptide-4 retention in E.R.
  4. Morphology –
    1. Round to oval cytoplasmic inclusion
    2. - eosinophilic, PAS +ve diastase resistant
  5. C/F → Neonatal hepatitis with cholestatic jaundice in 10-20% newborns with this deficiency.  Q
     
    Cirrhosis by middle to late life
    HCC: 2-3%Q




Test Your Skills Now!
Take a Quiz now
Reviewer Name