The national alpha-1 antitrypsin deficiency registry in Poland.
The alpha-1 antitrypsin deficiency (AATD) targeted screening program, together with the National Registry, were established in Poland in 2010 soon after the AATD diagnostics became available. Between 2010 and 2014 a total of 2525 samples were collected from respiratory patients countrywide; 55 patients with severe AAT deficiency or rare mutations were identified and registered, including 36 PiZZ subjects (65%). The majority of AATD patients were diagnosed with COPD (40%) or emphysema (7%), but also with bronchial asthma (16%) and bronchiectasis (13%). Therefore, the registry has proved instrumental in setting-up the AATD-dedicated network of respiratory medical centres in Poland. Since augmentation therapy is not reimbursed in our country, the smoking cessation guidance, optimal pharmacotherapy of respiratory symptoms as well the early detection, and effective treatment of exacerbations is absolutely essential.
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases , Warsaw , Poland.
Joanna
J
Chorostowska-Wynimko
Radoslaw
R
Struniawski
Paweł
P
Sliwinski
Beata
B
Wajda
Małgorzata
M
Czajkowska-Malinowska
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001249:Asthma / Q000175:diagnosis / Q000209:etiology; D001987:Bronchiectasis / Q000175:diagnosis / Q000209:etiology; D018450:Disease Progression; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D011044:Poland; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis / Q000209:etiology; D011656:Pulmonary Emphysema / Q000175:diagnosis / Q000209:etiology; D012042:Registries; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
COPD; alpha-1 antitrypsin deficiency; diagnostics; rare mutations