Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD
Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD
Authors
Ilaria Ferrarotti
Semey State Medical University, Semey; Dept of Internal Medicine and Therapeutics, Pneumology Unit, University of Pavia, Pavia
Ardak Zhumagaliyeva
Semey State Medical University, Semey
Stefania Ottaviani
Center for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Pavia
Timm Greulich
University Clinic of Marburg and Gissen, Center for Research alpha-1-antitrypsin deficiency, Marburg
Marina Gorrini
Center for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Pavia
Claus Vogelmeier
University Clinic of Marburg and Gissen, Center for Research alpha-1-antitrypsin deficiency, Marburg
Ludmila Karazhanova
Semey State Medical University, Semey
Gulmira Nurgazina
Kazakh Medical University of Continuing Education, Almaty
Annalisa DeSilvestri
Statistics Department Fondazione IRCCS Policlinico San Matteo, Pavia
Victor Kotke
University Clinic of Marburg and Gissen, Center for Research alpha-1-antitrypsin deficiency, Marburg
Valentina Barzon
Center for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Pavia
Michele Zorzetto
Center for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Pavia
Angelo Corsico
Center for Diagnosis of Inherited Alpha1-antitrypsin Deficiency, Dept of Internal Medicine and Therapeutics Pneumology Unit, IRCCS San Matteo Hospital Foundation University of Pavia, Pavia; Dept of Internal Medicine and Therapeutics, Pneumology Unit, University of Pavia, Pavia
Background: Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens.
Methods: The alpha1-antitrypsin (AAT) concentration was determined by nephelometry, PCR was used to detect PiS and PiZ alleles; and isoelectric focusing was used to confirm questionable genotype results and detect rare AAT variants.
Results: To this aim, 187 Kazakh subjects with COPD were recruited. Blood samples were collected as dried blood spot. Genotyping of 187 samples revealed 3 (1.6%) PI*MZ and 1 (0.53%) PI*MS, Phenotyping identified also two sample (1.1%) with phenotype PiMI. Allelic frequencies of pathological mutations Z, S and I resulted 0.8%, 0.3%, 0.5%, respectively, in COPD Kazakh population.
Conclusions: This study proved that AATD is present in the Kazakh population. These results support the general concept of targeted screening for AAT deficiency in countries like Kazakhstan, with a large population of COPD patients and low awareness among care-givers about this genetic condition.
Ferrarotti I, Zhumagaliyeva A, Ottaviani S, Greulich T, Gorrini M, Vogelmeier C, et al. Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD. Multidiscip Respir Med [Internet]. 2017 Jul. 17 [cited 2024 Jul. 4];12(1). Available from: https://mrmjournal.org/index.php/mrm/article/view/249
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