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Dépistage du déficit en alpha1-antitrypsine sur sang capillaire recueilli sur papier-filtre : bilan des 20 premiers mois

Abstract : Introduction. - Alpha1-antitrypsin deficiency is a predisposing factor for pulmonary disease and under-diagnosis is a significant problem. The results of a targeted screening in patients with respiratory symptoms possibly indicative of severe deficiency are reported here. Methods. - Data were collected from March 2016 to October 2017 on patients who had a capillary blood sample collected during a consultation with a pulmonologist and sent to the laboratory for processing to determine alpha1-antitrypsin concentration, phenotype and possibly genotype. Results. - In 20 months, 3728 test kits were requested by 566 pulmonologists and 718 (19 %) specimens sent: among these, 708 were analyzable and 613 were accompanied by clinical information. Of the 708 samples, 70 % had no phenotype associated with quantitative alpha1-antitrypsin deficiency, 7 % had a phenotype associated with a severe deficiency and 23 % had a phenotype associated with an intermediate deficiency. One hundred and eight patients carried at least one Pl*Z allele which is considered to be a risk factor for liver disease. Conclusions. - The results of this targeted screening program for alpha1-antitrypsin deficiency using a dried capillary blood sample reflect improvement in early diagnosis of this deficiency in lung disease with good adherence of the pulmonologists to this awareness campaign.
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https://hal.inrae.fr/hal-03154614
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Submitted on : Monday, March 1, 2021 - 10:20:06 AM
Last modification on : Tuesday, March 2, 2021 - 3:23:06 AM

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C. Chapuis Cellier, C. Narjoz, F. Zerimech, M.-F. Odou, P. Joly, et al.. Dépistage du déficit en alpha1-antitrypsine sur sang capillaire recueilli sur papier-filtre : bilan des 20 premiers mois. Revue des Maladies Respiratoires, Elsevier Masson, 2020, 37 (8), pp.633-643. ⟨10.1016/j.rmr.2020.08.001⟩. ⟨hal-03154614⟩

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