Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency


ALPHA-1 ANTITRYPSIN DEFICIENCY

  • Apha-1 antitrypsin deficiency is an autosomal recessive disorder.
  • Alpha- 1 antitrypsin is a serine protease (mainly elastase) inhibitor produced in the liver.
  • It produces liver disease (cirrhosis), pulmonary disease (panacinar- emphysema).
  • Associated with bronchiestasis, cutaneous paniculitis & Wegner’s granulomatosis.

Pathogenesis

  • Protein folding & accumulation of protein in endoplasmic reticulum.

Histology-

  • PAS- positive & diastase resistant cytoplasmic globules in peripheral hepatocytes, Mallory- Denke’s- bodies.
  • Alpha- 1 antitrypsin is located on chromosome 14.
  • PiMM most common normal phenotype.
  • Pizz in homozygote form leading to liver & lung disease is most frequent abnormal phenotype.
  • Pulmonary changes- emphysema in smoker’s & non- smoker’s.
  • Liver changes- Cirrhosis, hepatoma, heaptocellular carcinoma.

Exam Important

  • Apha-1 antitrypsin deficiency is an autosomal recessive disorder.
  • Alpha- 1 antitrypsin is a serine protease (mainly elastase) inhibitor produced in the liver.
  • It produces liver disease (cirrhosis), pulmonary disease (panacinar- emphysema).
  • Associated with bronchiestasis, cutaneous paniculitis & Wegner’s granulomatosis.

Pathogenesis

  • Protein folding & accumulation of protein in endoplasmic reticulum.

Histology-

  • PAS- positive & diastase resistant cytoplasmic globules in peripheral hepatocytes, Mallory- Denke’s- bodies.
  • Alpha- 1 antitrypsin is located on chromosome 14.
  • PiMM most common normal phenotype.
  • Pizz in homozygote form leading to liver & lung disease is most frequent abnormal phenotype.
  • Pulmonary changes- emphysema in smoker’s & non- smoker’s.
  • Liver changes- Cirrhosis, hepatoma, heaptocellular carcinoma.
Don’t Forget to Solve all the previous Year Question asked on Alpha-1 Antitrypsin Deficiency
Click Here to Start Quiz

Module Below Start Quiz

Leave a Reply

%d bloggers like this:
Malcare WordPress Security