[Obstructive pulmonary syndromes in children with alpha 1 antitrypsin deficiency. 3 cases].
During the last six years, the search for a deficiency in alpha-1-antitrypsin (AAT) was carried out in 106 children aged from 5 months to 14 years, having the obstructive pulmonary syndrome. Nine deficiencies were in this manner detected and phenotyped. These are the observations of three of these children which are reported here. Their age ranged between 4 years and a half for two of them and 8 years for the third one, having asthma. The phenotypes are respectively SS, MZ, and ZZ. Following these observations, the problems brought up by the association in AAT deficiency and the obstructive pulmonary syndrome in children are discussed: clinical symptomatology, interpretation of the basic design, pathogenic signification and possible connections with asthma and therapeutic influence. The functional respiratory disorders noted in these children involved a ventilatory asychronism, an overexpansion, and regional abnormalities of ventilation and perfusion. To answer these still outstanding questions, the need for a systematic prospective study carried out on a wide group of children is emphasized.
D000293:Adolescent; D001249:Asthma / Q000209:etiology; D001991:Bronchitis / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000209:etiology* / Q000235:genetics; D008297:Male; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000209:etiology; D012129:Respiratory Function Tests; D000515:alpha 1-Antitrypsin / Q000032:analysis; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin
Syndromes pulmonaires obstructifs de l' enfant avec déficit en alpha-1-antitrypsine. Trois observations