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COPD: Journal of Chronic Obstructive Pulmonary Disease Volume 12, 2015 - Issue sup1: Alpha1-antitrypsin deficiency
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ORIGINAL RESEARCH

Italian Registry of Patients with Alpha-1 Antitrypsin Deficiency: General Data and Quality of Life Evaluation

Maurizio Luisetti
,
Ilaria FerrarottiCorrespondence[email protected]
,
Luciano CordaMedicina Respiratoria, Seconda Divisione di Medicina Interna, Spedali Civili, Brescia, Italy
,
Stefania OttavianiCentro per la Diagnosi del Deficit Ereditario di Alfa-1 Antitripsina, Laboratorio di Biochimica e Genetica, S. C. Pneumologia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
,
Nuccia GattaAssociazione Nazionale ALFA1-AT, Sarezzo (BS), Italy
,
Carmine TinelliServizio di Statistica ed Epidemiologia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
,
Gisella BrulettiDivisione di Pneumologia, Fondazione Salvatore Maugeri, IRCCS, Lumezzane (BS), Italy
,
Enrica BertellaDivisione di Pneumologia, Fondazione Salvatore Maugeri, IRCCS, Lumezzane (BS), Italy
,
Gianluigi BalestroniServizio di Psicologia, Fondazione Salvatore Maugeri, IRCCS, Veruno (NO), Italy
,
Marco ConfalonieriS.C. Pneumologia, A.O. Ospedali Riuniti, Trieste, Italy
,
Christine SeebacherPneumologia, Azienda Sanitaria di Bolzano, Bolzano, Italy
,
Leonardo IannacciRiabilitazione Pneumologica, A.O.V.V. Presidio di Sondalo, Sondalo (SO), Italy
,
Simona FerrariCentro per la Diagnosi del Deficit Ereditario di Alfa-1 Antitripsina, Laboratorio di Biochimica e Genetica, S. C. Pneumologia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
,
Francesco G. SalernoDivisione di Pneumologia, Fondazione Salvatore Maugeri, IRCCS, Cassano Murge (BA), Italy
,
Frescesca MarianiCentro per la Diagnosi del Deficit Ereditario di Alfa-1 Antitripsina, Laboratorio di Biochimica e Genetica, S. C. Pneumologia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
,
Mauro CaroneDivisione di Pneumologia, Fondazione Salvatore Maugeri, IRCCS, Cassano Murge (BA), Italy
&
Bruno BalbiDivisione di Pneumologia, Fondazione Salvatore Maugeri, IRCCS, Veruno (NO), Italy
 show all
Pages 52-57 | Published online: 04 May 2015

References

  • Brantly ML, Paul LD, Miller BH, et al. Clinical features and history of the destructive lung disease associated with alpha-1 antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis 1988; 138:327–336.
  • Knebel AR, Leidy NK, Sherman S. Health related quality of life and disease severity in patients with alpha-1 antitrypsin deficiency. Qual Life Res 1999; 8: 385–391.
  • Luisetti M, Massi G, Massobrio M, et al. A national program for detection of alpha 1-antitrypsin deficiency in Italy. Respir Med 1999; 93:169–172.
  • Piras B, Ferrarotti I, Lara B, et al. Clinical phenotypes of Italian and Spanish patients with Alpha-1-antitrypsin deficiency. Eur Respir J 2013; 42:54–64.
  • Miravitles M, Herr C, Ferrarotti I, et al. Laboratory testing of individuals with severe a1-antitrypsin deficiency in three European centres. Eur Respir J 2010; 35:960–968.
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  • Global Initiative for Chronic Obstructive Lung Disease (GOLD). Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease (Revised 2011). http://www.goldcopd.com. Accessed December 2014.
  • ATS/ERS Statement: Standards for the diagnosis and management of individuals with Alpha1-antitrypsin deficiency. Am J Respir Crit Car Med 2003; 168: 818–900.
  • Stockley RA, Miravitlles M, Vogelmeier C, and Behalf of Alpha One International Registry (AIR). Augmentation therapy for alpha-1 antitrypsin deficiency: towards a personalized approach. Orph J Rare Dis 2013; 8:149.
  • Köhnlein T, Janciauskiene S, Welte T. Diagnostic delay and clinical modifiers in alpha-1 antitrypsin deficiency. Ther Adv Respir Dis 2010; 4:279–287.
  • Ferrarotti I, Baccheschi J, Zorzetto M, et al.. Prevalence of rare variants in the Italian Registry for Severe Alpha 1-Antitrypsin Deficency. J Med Genet 2005; 42:282–287.
  • Balbi B, Fiasella F, Fabiano F. Alpha1-antitrypsin deficiency in a Z homozygote in Italian patient with bronchiectasis. Rassegna di Patologia dell’Apparato Respiratorio 1994; 9:254–257.

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