[A case of premature emphysema with hereditary alpha-1-antiproteinase deficiency].
A case of alpha-I-antiproteinase (AIPI) hereditary deficiency (serum concentration 34 mg%, determined by NOR-Partigen Assay F-my Behringer) in 41 years old patient with premature emphysema, confirmed by phenotyping (isoelectrofocusing in polyacrylamide gel) phenotype PiZ is presented. Lung function tests showed considerable decrease (FEV1 = 1,2 l., i.e. 34% pred., FEF50% = 0.55 l., i.e. 12% pred., diffusing capacity DLCO = 12.8 ml/min/mmHg, i.e. 43% pred.). Computed tomography revealed huge emphysematous bullae mainly in supradiaphragmatic parts of the lungs. The authors discuss the difficulties in diagnosing homozygotes with A1P1 deficiency. They suggest screening of severe hereditary deficiency in persons with emphysema in age interval 30-55 years. The presented case of premature emphysema and AIPI deficiency (confirmed by phenotyping variant Z) is the first in the polish literature.
Szmidt
M
M
II Kliniki Gruźlicy i Chorób Płuc, Instytutu Gruźlicy i Chorób Płucw Warszawie.
Cieślak
M
M
D000328:Adult; D004646:Emphysema / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D019272:Leukocyte Elastase; D008297:Male; D010196:Pancreatic Elastase / Q000172:deficiency* / Q000235:genetics; D010641:Phenotype; D012129:Respiratory Function Tests; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin; C037741:alpha 1-antitrypsin-leukocyte elastase complex; D010196:Pancreatic Elastase; D019272:Leukocyte Elastase
Przypadek przedwczesnej rozedmy płuc uwarunkowanej wrodzonym niedoborem alfa-I-antyproteinazy.