[Screening for alpha1-antitrypsin deficiency using dried blood spot: Assessment of the first 20 months].

Autor:	Chapuis Cellier C; Centre de biologie Sud, laboratoire d'immunologie, centre hospitalier Lyon-Sud, hospices civils de Lyon & université Claude-Bernard-Lyon-1, Lyon, France., Narjoz C; Service de biochimie, assistance publique des hôpitaux de Paris (AP-HP), hôpital Européen Georges-Pompidou, Paris, France., Zerimech F; CHU de Lille, laboratoire de biochimie et biologie moléculaire (HMNO), centre de biologie pathologie, boulevard du Pr.-Jules-Leclercq, 59037 Lille, France. Electronic address: farid.zerimech@chru-lille.fr., Odou MF; CHU de Lille, laboratoire de biochimie et biologie moléculaire (HMNO), centre de biologie pathologie, boulevard du Pr.-Jules-Leclercq, 59037 Lille, France; Inserm U1286-Infinite, faculté de pharmacie, laboratoire de bactériologie virologie, université de Lille, Lille, France., Joly P; UF « biochimie des pathologies érythrocytaires », laboratoire de biochimie et biologie moléculaire Grand-Est, groupement hospitalier Est, hospices civils de Lyon, Bron, France; Laboratoire interuniversitaire de biologie de la motricité (LIBM) EA7424, équipe « Biologie vasculaire et du globule rouge », université Claude-Bernard-Lyon 1, COMUE, Lyon, France., Lombard C; Centre de biologie Sud, laboratoire d'immunologie, centre hospitalier Lyon-Sud, hospices civils de Lyon & université Claude-Bernard-Lyon-1, Lyon, France., Mornex JF; Service de pneumologie, hospices civils de Lyon, Lyon, France; Université de Lyon, université Lyon 1, INRAE, IVPC, UMR 754, 69007 Lyon, France., Balduyck M; CHU de Lille, laboratoire de biochimie et biologie moléculaire (HMNO), centre de biologie pathologie, boulevard du Pr.-Jules-Leclercq, 59037 Lille, France; Faculté de pharmacie et EA 7364 RADEME, laboratoire de biochimie et biologie moléculaire, université de Lille, Lille, France.
Jazyk:	francouzština
Zdroj:	Revue des maladies respiratoires [Rev Mal Respir] 2020 Oct; Vol. 37 (8), pp. 633-643. Date of Electronic Publication: 2020 Aug 25.
DOI:	10.1016/j.rmr.2020.08.001
Abstrakt:	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 PI*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. (Copyright © 2020 SPLF. Published by Elsevier Masson SAS. All rights reserved.)
Databáze:	MEDLINE
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