title: [Respiratory manifestations of alpha 1-antitrypsin deficiency in children. Clinical, biological and respiratory function study in 132 cases].
abstract: Clinical, biologic and respiratory functional data from 132 children with alpha 1-antitrypsin (AAT) deficiency were analysed. There were 52 girls and 80 boys. The phenotypes Pi were MZ in 72 cases, S in 32 cases, SZ in 6 cases, M null in 2 cases, S null in 1 case and other Pi in 19 cases. Mean serum AAT level was 147 +/- 40 mg/100 ml. Fifty-four children presented with upper respiratory tract infections, 61 with allergic respiratory symptoms and 5 with cystic fibrosis. Respiratory function tests showed minor abnormalities: decreased FEV1/VC (77%), increased Raw (218%), trapped gas was present (44%) and Vmax 25 (57%) decreased. Finally Technetium 99 lung perfusion scan was abnormal in 9 of 15 studied cases. It is suggested that AAT deficiency may predispose to developing chronic obstructive lung disease in childhood.
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008171:Lung Diseases / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D010641:Phenotype; D012119:Respiration; D012129:Respiratory Function Tests; D019896:alpha 1-Antitrypsin Deficiency
vernacular_title: Formes respiratoires du déficit en alpha 1-antitrypsine chez l'enfant.