Beatriz Lara1, Ignacio Blanco2, María Teresa Martínez3, Esther Rodríguez4, Ana Bustamante5, Francisco Casas6, Sergio Cadenas7, José M Hernández8, Lourdes Lázaro9, María Torres10, Sergio Curi11, Cristina Esquinas4, Francisco Dasí12, Amparo Escribano13, Inés Herrero14, Beatriz Martínez-Delgado15, Francisco Javier Michel16, Francisco Rodríguez-Frías4, Marc Miravitlles4. 1. Respiratory Medicine Department, Coventry and Warwickshire University Hospital, Coventry, Warwickshire, Reino Unido. Electronic address: beat1135@gmail.com. 2. Coordinador del Registro Español de pacientes con déficit de alfa-1 antitripsina, Fundación Española de Pulmón. Respira. SEPAR, Barcelona, España. 3. Servicio de Neumología, Hospital Universitario Doce de Octubre, Madrid, España. 4. Servicio de Neumología, Hospital Universitari Vall d'Hebron, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, España. 5. Servicio de Neumología, Hospital Sierrallana, Torrelavega Cantabria, España. 6. Unidad de Gestión Clínica de Neumología, Complejo Hospitalario Universitario de Granada, Granada, España. 7. Servicio de Neumología, Hospital Clínico Universitario de Salamanca, Salamanca, España. 8. Servicio de Neumología, Hospital General de La Palma, La Palma, Canarias, España. 9. Servicio de Neumología, Hospital Universitario de Burgos, Burgos, España. 10. Servicio de Neumología. Hospital Universitario Álvaro Cunqueiro. EOXI, Vigo, España. 11. Servicio de Neumología, Complejo Hospitalario de Navarra, Pamplona, España. 12. Fundación INCLIVA, Valencia, España. 13. Servicio de Pediatría, Hospital Clínico Universitario de Valencia, Valencia, España. 14. Hospital Clínico Miguel Servet, Zaragoza, España. 15. Departamento de Genética Humana, Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, España. 16. Servicio de Neumología, Hospital Universitario de Donostia, San Sebastián, País Vasco, España.
Abstract
INTRODUCTION AND OBJECTIVE: REDAAT, the Spanish Registry of Patients with Alpha-1 Antitrypsin Deficiency, was set up in order to improve knowledge of this disease. This study is an evaluation of the registry and an analysis of its patient population. METHODS: The registry has a database hosted on the website www.redaat.es. It collects clinical and functional data on patients with PiSZ, ZZ phenotypes and other rare variants. RESULTS: Thanks to the collaboration of 124 physicians, the registry currently contains information on 511 individuals from 103 healthcare centers. Of these 511, 348 (74.2%) are Pi*ZZ homozygotes, and 100 (19.5%) are Pi*SZ heterozygotes. More cases are seen in tertiary level hospitals. A total of 81% of the cases have respiratory disease, and a lower proportion of AATD cases were detected by family screening or liver disease. Follow-up data are available for 45% of the cases, and 35% received alpha-1 antitripsin replacement therapy. CONCLUSIONS: The REDAAT registry is a useful tool for obtaining quality information about this minority disease in routine clinical practice conditions, although it is difficult to obtain follow-up data, and the representativeness of the sample included cannot be determined.
INTRODUCTION AND OBJECTIVE: REDAAT, the Spanish Registry of Patients with Alpha-1 AntitrypsinDeficiency, was set up in order to improve knowledge of this disease. This study is an evaluation of the registry and an analysis of its patient population. METHODS: The registry has a database hosted on the website www.redaat.es. It collects clinical and functional data on patients with PiSZ, ZZ phenotypes and other rare variants. RESULTS: Thanks to the collaboration of 124 physicians, the registry currently contains information on 511 individuals from 103 healthcare centers. Of these 511, 348 (74.2%) are Pi*ZZ homozygotes, and 100 (19.5%) are Pi*SZ heterozygotes. More cases are seen in tertiary level hospitals. A total of 81% of the cases have respiratory disease, and a lower proportion of AATD cases were detected by family screening or liver disease. Follow-up data are available for 45% of the cases, and 35% received alpha-1 antitripsin replacement therapy. CONCLUSIONS: The REDAAT registry is a useful tool for obtaining quality information about this minority disease in routine clinical practice conditions, although it is difficult to obtain follow-up data, and the representativeness of the sample included cannot be determined.
Authors: Myriam Calle Rubio; Joan B Soriano; José Luis López-Campos; Juan J Soler-Cataluña; Bernardino Alcázar Navarrete; José Miguel Rodríguez González-Moro; Marc Miravitlles; Miriam Barrecheguren; Manuel E Fuentes Ferrer; Juan Luis Rodriguez Hermosa Journal: PLoS One Date: 2018-06-28 Impact factor: 3.240
Authors: I Suárez-Lorenzo; F Rodríguez de Castro; D Cruz-Niesvaara; E Herrera-Ramos; C Rodríguez-Gallego; T Carrillo-Diaz Journal: Clin Transl Allergy Date: 2018-11-02 Impact factor: 5.871
Authors: María Torres-Durán; José Luis López-Campos; Juan Luis Rodríguez-Hermosa; Cristina Esquinas; Cristina Martínez-González; José María Hernández-Pérez; Carlota Rodríguez; Ana Bustamante; Francisco Casas-Maldonado; Miriam Barrecheguren; Cruz González; Marc Miravitlles Journal: ERJ Open Res Date: 2022-09-26
Authors: Timm Greulich; Alan Altraja; Miriam Barrecheguren; Robert Bals; Jan Chlumsky; Joanna Chorostowska-Wynimko; Christian Clarenbach; Luciano Corda; Angelo Guido Corsico; Ilaria Ferrarotti; Cristina Esquinas; Caroline Gouder; Ana Hećimović; Aleksandra Ilic; Yavor Ivanov; Sabina Janciauskiene; Wim Janssens; Malcolm Kohler; Alvils Krams; Beatriz Lara; Ravi Mahadeva; Gerry McElvaney; Jean-François Mornex; Karen O'Hara; David Parr; Eava Piitulainen; Karin Schmid-Scherzer; Niels Seersholm; Robert A Stockley; Jan Stolk; Maria Sucena; Hanan Tanash; Alice Turner; Ruxandra Ulmeanu; Marion Wilkens; Arzu Yorgancioğlu; Ana Zaharie; Marc Miravitlles Journal: ERJ Open Res Date: 2020-03-02
Authors: Irene Belmonte; Alexa Nuñez; Miriam Barrecheguren; Cristina Esquinas; Mònica Pons; Rosa M López-Martínez; Gerard Ruiz; Albert Blanco-Grau; Roser Ferrer; Joan Genescà; Marc Miravitlles; Francisco Rodríguez-Frías Journal: Int J Chron Obstruct Pulmon Dis Date: 2020-10-07