[Alpha 1-antitrypsin phenotypes and their role in the development of early and late cirrhosis of the liver].
On the basis of cooperation with the Children's Health Centre the role was analysed of certain phenotypes of alpha 1-antitrypsin (alpha 1-AT), mainly Pi Z and Pi MZ phenotypes in the development of infantile cirrhosis. A significant participation was demonstrated of the latter phenotype in patients developing infantile cirrhosis. The preliminary analysis of the incidence of pathological alpha 1-AT phenotypes in the group of patients with cirrhosis manifested at the adult age seems to indicate the higher incidence of the Pi MZ phenotype as compared with the general population. The genetically determined low serum alpha 1-AT activity is probably one out of many factors determining the development of this disease. Further studies will be aimed at explaining whether the combination of action of two factors: alpha 1-AT deficiency and exposure to hepatotoxic agents is not accelerating the appearance of the disease and is not potentiating its clinical intensity.
Piłacik
B
B
Instytutu Medycyny Pracy im. prof. J. Nofera w Lodzi.
Rujner
J
J
Socha
J
J
Madaliński
K
K
Cianciara
J
J
Mian
N
N
D000293:Adolescent; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D010641:Phenotype; D013997:Time Factors; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin
Fenotypy alpha 1-antytrypsyny i ich rola w rozwoju wczesnej i późnej marskości watroby.