[Screening for alpha1-antitrypsin deficiency using dried blood spot: Assessment of the first 20 months]. / Dépistage du déficit en alpha1-antitrypsine sur sang capillaire recueilli sur papier-filtre : bilan des 20 premiers mois.
Rev Mal Respir
; 37(8): 633-643, 2020 Oct.
Article
de Fr
| MEDLINE
| ID: mdl-32859429
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 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.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Dépistage de masse
/
Déficit en alpha-1-antitrypsine
/
Dépistage sur goutte de sang séché
Type d'étude:
Diagnostic_studies
/
Evaluation_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limites:
Aged80
Pays/Région comme sujet:
Europa
Langue:
Fr
Journal:
Rev Mal Respir
Année:
2020
Type de document:
Article
Pays d'affiliation:
France