True about alpha-1 antitrypsin deficiency, is are:
A. Autosomal dominantB. Pulmonary emphysema
C. Diastase resistant hepatic cells
D. Hepatic cells are orcein stain positive
E. Associated with berry aneurysm
Ans.
B. Pulmonary emphysema ; (C) Diastase resistant hepatic cells :
• alpha1-anti-trypsin deficiency, is an autosomal recessive diseasemarked by abnormally low levels of (serum) of this major protease inhibitor (Pi)
• Deficiency of the enzyme leads to pulmonary emphysema.
• It is characterised by
— Presence of round to oval cytoplasmic globular inclusions in hepatocytes which on H and E stains show cidophilic and indistinctly demarcated from surrounding cytoplasm. In most part, only distinctive feature is globules. Infrequently-fatty change, mallory bodies
• alpha1-anti-trypsin deficiency, is an autosomal recessive diseasemarked by abnormally low levels of (serum) of this major protease inhibitor (Pi)
• Deficiency of the enzyme leads to pulmonary emphysema.
• It is characterised by
— Presence of round to oval cytoplasmic globular inclusions in hepatocytes which on H and E stains show cidophilic and indistinctly demarcated from surrounding cytoplasm. In most part, only distinctive feature is globules. Infrequently-fatty change, mallory bodies
