Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency.

Archivos de bronconeumología
José Luis Lopez-CamposMarc Miravitlles

Abstract

The objective of this analysis was the evaluation of a new national circuit used for diagnosing alpha1 antitrypsin deficiency (AATD) based on multiplex technology using online registration and mail posted samples from dried blood spots (DBS) and buccal swabs. This is an observational, ongoing study conducted in Spain since March 2018. Samples are coded on a web platform and sent by postal mail to the central laboratory. Allele-specific genotyping for the 14 most common mutations was done with the Luminex 200 Instrument System. Gene sequencing was done if none of the mutations were found and the AAT serum level was <60mg/dl, or by request from the clinician in charge. At the time of the present report, 5803 (92.9%) samples were processed, 4984 (85.9%) from buccal swab and 819 (14.1%) from DBS. The prevalence of the frequent allele combinations were: MS 19.0%, MZ 14.4%, SS 2.9%, SZ 3.7%, and ZZ: 1.4%. Globally, Z carriers represented 20.0% and S carriers 26.6% of this population, with differences seen between regions. 209 (3.6%) were identified carrying rare alleles, 12 (0.2%) carrying null alleles and 14 (0.3%) new mutations were described. Respiratory diseases other than COPD, including poorly controlled asthma or bronchiectasi...Continue Reading

References

Oct 6, 2005·The European Respiratory Journal·C de la RozaM Miravitlles
Jul 15, 2011·Respiratory Research·Tomás P CarrollNoel G McElvaney
Jul 5, 2012·CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne·Sarah K BrodeKenneth R Chapman
Mar 3, 2015·European Respiratory Review : an Official Journal of the European Respiratory Society·Joanna Chorostowska-Wynimko
May 26, 2015·International Journal of Chronic Obstructive Pulmonary Disease·Katrin MilgerNikolaus Kneidinger
Jun 11, 2016·Orphanet Journal of Rare Diseases·Timm GreulichAndreas Rembert Koczulla
Oct 13, 2016·ERJ Open Research·Nupur AggarwalFelix C Ringshausen
Jan 21, 2017·Clinical Chemistry and Laboratory Medicine : CCLM·Irene BelmonteFrancisco Rodríguez-Frías
Mar 1, 2017·International Journal of Chronic Obstructive Pulmonary Disease·Ignacio BlancoMarc Miravitlles
Mar 13, 2017·The Journal of Allergy and Clinical Immunology. in Practice·Theodore KelbelTimothy Craig
Jun 28, 2017·International Journal of Chronic Obstructive Pulmonary Disease·Ignacio BlancoMarc Miravitlles
Dec 2, 2017·The European Respiratory Journal·Marc MiravitllesRobert A Stockley
Jan 31, 2018·COPD·Christopher L SandersFriedrich Kueppers
Nov 10, 2018·Clinical and Translational Allergy·I Suárez-LorenzoT Carrillo-Diaz
Jun 4, 2019·Archivos de bronconeumología·Sabina JanciauskieneUNKNOWN Participating sites and coordinators
Oct 1, 2019·International Journal of Chronic Obstructive Pulmonary Disease·Amy AttawayJames K Stoller
Dec 11, 2019·International Journal of Chronic Obstructive Pulmonary Disease·Martina VeithTimm Greulich
Mar 18, 2020·Journal of Clinical Laboratory Analysis·Stefania OttavianiIlaria Ferrarotti

❮ Previous
Next ❯

Citations

Aug 9, 2020·Journal of Clinical Medicine·José Luis López-CamposCandelaria Caballero Eraso
Oct 30, 2020·International Journal of Chronic Obstructive Pulmonary Disease·Irene BelmonteFrancisco Rodríguez-Frías

❮ Previous
Next ❯

Related Concepts

Related Feeds

Allergy and Asthma

Allergy and asthma are inflammatory disorders that are triggered by the activation of an allergen-specific regulatory t cell. These t cells become activated when allergens are recognized by allergen-presenting cells. Here is the latest research on allergy and asthma.

Asthma

This feed focuses in Asthma in which your airways narrow and swell. This can make breathing difficult and trigger coughing, wheezing and shortness of breath.

Related Papers

Jornal brasileiro de pneumologia : publicaça̋o oficial da Sociedade Brasileira de Pneumologia e Tisilogia
José R JardimMarc Miravitlles
Clinical Chemistry and Laboratory Medicine : CCLM
Irene BelmonteFrancisco Rodríguez-Frías
Anales del sistema sanitario de Navarra
P RodríguezF J González-Barcala
Journal of Medical Case Reports
Anna AnnunziataGiuseppe Fiorentino
© 2021 Meta ULC. All rights reserved