Fatal liver disease associated with alpha 1-antitrypsin deficiency PiM1/PiMduarte.
A 53-yr-old man with a rare form of partial alpha 1-antitrypsin deficiency, PiM1/PiMduarte, died of endstage cirrhosis. Typical cytoplasmic alpha 1-antitrypsin globules were present in the hepatocyte cytoplasm. Initial protease inhibitor phenotyping on the patient was reported as normal PiM1 in more than one laboratory. This case emphasizes the diagnostic importance of alpha 1-antitrypsin and illustrates the point that protease inhibitor phenotyping without family genotyping may be misleading in heterozygous patients with liver disease.
Crowley
J J
JJ
Sharp
H L
HL
Freier
E
E
Ishak
K G
KG
Schow
P
P
D003593:Cytoplasm / Q000378:metabolism; D006651:Histocytochemistry; D006801:Humans; D007124:Immunoenzyme Techniques; D008107:Liver Diseases / Q000150:complications* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011480:Protease Inhibitors / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D011480:Protease Inhibitors; D000515:alpha 1-Antitrypsin