[Lung functions in children with marked alpha 1-antitrypsin deficiency (Pi-Z type) (author's transl)].
Various lung volumes and flows were measured in five children (aged 9-11 years), a male adolescent and one adult, all carriers of the homozygotic form of alpha 1-antitrypsin deficiency (Pi-Z type). In five patients lung function tests demonstrated overdistention, in three decreased CO diffusion capacity, as an expression of pulmonary emphysema at an early stage. Airway obstruction was not demonstrable in any of the patients (normal values for FEV 1, Tiffeneau test, peak flow and V25, V50 and V75). There was a correlation between the level of alpha 2-macroglobulin and the CO diffusion capacity, as well as between alpha 1-antitrypsin level and residual volumes. In one child there was evidence of minor liver involvement; in the other six patients, all liver-dependent serum enzymes were within normal limits. The findings suggest that the lung changes typical of adult homozygotic carriers of alpha 1-antitrypsin deficiency have their beginning in childhood.
D000328:Adult; D000367:Age Factors; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D012016:Reference Values; D012115:Residual Volume; D012129:Respiratory Function Tests; D019896:alpha 1-Antitrypsin Deficiency; D000511:alpha-Macroglobulins / Q000032:analysis
D000511:alpha-Macroglobulins
Die Lungenfunktion bei Kindern mit ausgeprägtem alpha 1-Antitrypsin-Mangel (Pi-Typ Z).