Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency
Greulich, Timm (University Hospital of Giessen and Marburg (Alemanya))
Rodríguez Frías, Francisco (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas)
Belmonte, Irene (Hospital Universitari Vall d'Hebron)
Klemmer, Andreas (German Centre for Lung Research (Alemanya))
Vogelmeier, Claus F. (German Centre for Lung Research (Alemanya))
Miravitlles, Marc (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Universitat Autònoma de Barcelona

Data:	2018
Resum:	Alpha-1-Antitrypsin (AAT) deficiency (AATD) is a hereditary disorder that manifests primarily as pulmonary emphysema and liver cirrhosis. The clinically most relevant mutation causing AATD is a single nucleotide polymorphism Glu342Lys (Z-mutation). Despite the recommendation to test every COPD patient, the condition remains severely underdiagnosed with a delay of several years between first symptoms and diagnosis. The Grifols' AlphaKit® QuickScreen is a novel qualitative point-of-care (POC) in vitro screening test developed for the detection of the Z AAT protein in capillary whole blood. The objective of this prospective, international, multi-center, diagnostic, interventional real-world study was to assess the performance of this device for the detection of AATD in test-naïve COPD patients. 1044 test-naïve COPD patients were recruited from 9 centers in Spain and 10 centers in Germany, ranging from primary to tertiary care. To evaluate the performance of the test, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated compared with the gold standard (genotyping). Genotyping and phenotyping of all 1019 evaluable samples revealed 4. 12% of patients as carriers of at least one Z-allele, while 0. 29% carried the homozygous genotype Pi*ZZ. The evaluation of the test's ability to detect the PiZ protein yielded the following results: specificity 97. 8%, sensitivity 73. 8%, negative predictive value 98. 9%, and positive predictive value 58. 5%. All false negatives (n = 11) were heterozygote Pi*MZ samples. The tested device can be used as an appropriate tool to exclude AATD in primary care and in the overall COPD population, except in patients with a high a-priori- probability of AATD.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Chronic obstructive pulmonary disease ; COPD ; Alpha-1-antitrypsin deficiency ; Screening ; Lateral flow assay
Publicat a:	Respiratory Research, Vol. 19 (august 2018) , ISSN 1465-993X

DOI: 10.1186/s12931-018-0826-8
PMID: 30103740

7 p, 783.5 KB

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