[Severe alpha 1-antitrypsin deficiency: clinical observations of 21 patients].
The disease course is described in 21 patients with low serum concentrations of alpha1-antitrypsin of the phenotype Z (genotype pi ZZ). 13 of these patients have long-standing disease characterized by bronchitis or dyspnea beginning before the age of 40 and progressing to emphysema (11 patients) and to corpulmonale (7 patients). The remaining 8 patients are children with hepatopathy characterized by prolonged jaundice at birth, persistent hepatomegaly and persistently elevated liver enzymes. In 2 children, the evolution to cirrhosis was ascertained by biopsy.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000209:etiology; D008171:Lung Diseases / Q000209:etiology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin
Schwerer alpha1-Antitrypsin-Mangel. Klinische Beobachtung bei 21 Patienten.