L'observation que nous rapportons, concerne une malade de 34 ans, qui présente un asthme pollinique depuis six ans, sans aucune lésion pulmonaire. Le dosage de l'alpha-1-antitrypsine révèle l'existence d'un déficit (120 mg/100 ml).
Cette malade a deux filles âgées de 7 ans et de 10 ans. Le dosage de l'alpha-1-antitrypsine chez l'aînée est normal (210 mg/100 ml), par contre la cadette présente un taux abaissé à 105 mg/100 ml.
L'étude du phénotype montre que la mère et la cadette sont M Z (hétérozygotes), la fille aînée est M M. La mère est issue d'une famille de 14 enfants, parmi lesquels deux frères porteurs de la tare sont décédés d'une insuffisance respiratoire aiguë, à 38 et 42 ans. D'autres membres de cette famille présentent actuellement un emphysème associé à cette tare, et il existe des sujets apparemment sains. Enfin, les parents de ces 14 enfants sont consanguins, et la mère est porteuse de la tare, mais ne présente aucun trouble respiratoire. La tare est donc retrouvée sur trois générations.
La conduite à tenir sur le plan thérapeutique n'est pas définie.
The existence of a seric deficiency in alpha-1-antitrypsin in certain chronic bronchopneumopathies now constitutes a definite clinical entity.
The familial or individual nature of this deficiency is revealed by the early onset of a respiratory insufficiency.
The case which we describe involves a 34-year-old woman suffering from pollinic asthma for six years but having no discernible pulmonary lesion. Assessment of alpha-1-antitrypsin showed a deficiency (120 mg/100 ml).
This patient has two daughters aged seven and ten. They show no particular antecedent and a somatic examination was perfectly normal. The amount of alpha-1-antitrypsin in the elder was within the normal range (210 mg/100 ml), the younger girl however had a reduced amount (105 mg/100 ml). A study of the phenotype showed the mother and the younger girl to be MZ (heterozygotes), the older daughter MM.
The mother was one of 14 children with two brothers with emphysema associated with a deficiency in alpha-1-antitrypsin which manifested itself before the age of thirty. One died at the age of thirty-eight and the other at forty-two. Other members of this family are at present suffering from emphysema connected with this defect and there are some of them who appear to be in good health.
Finally, the parents of these fourteen children are consanguineous, the mother transmitting the defect but not herself manifesting any respiratory disorder. This is a case of a defect being transmitted to three generations.
The therapy to adopt for the 34-year-old patient poses no problem from the allergological point of view where desensitization is the obvious solution, but the same does not apply to the treatment of the alpha-1-antitrypsin deficiency, for only preventive measures such as forbidding smoking and a polyvalent antimicrobial vaccinotherapy can prevent