Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis

作者：Lara Beatriz; Blanco Ignacio; Teresa Martinez Maria; Rodriguez Esther; Bustamante Ana; Casas Francisco; Cadenas Sergio; Hernandez Jose M; Lazaro Lourdes; Torres Maria; Curi Sergio; Esquinas Cristina; Dasi Francisco; Escribano Amparo; Herrero Ines; Martinez Delgado Beatriz; Javier Michel Francisco; Rodriguez Frias Francisco; Miravitlles Marc

来源：Archivos de Bronconeumologia, 2017, 53(1): 13-18.

DOI：10.1016/j.arbres.2016.05.003

• Registry
• Alpha-1 antitripsin

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.

• 出版日期2017-1