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

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• 作者：Beatriz Lara^a ; ^{beat1135@gmail.com} ; ^{Beatriz.Lara@uhcw.nhs.uk} ; Ignacio Blanco^b ; Mar&iacute ; a Teresa Mart&iacute ; nez^c ; Esther Rodr&iacute ; guez^d ; Ana Bustamante^e ; Francisco Casas^f ; Sergio Cadenas^g ; José ; M. Herná ; ndez^h ; Lourdes Lá ; zaroⁱ ; Mar&iacute ; a Torres^j ; Sergio Curi^k ; Cristina Esquinas^d ; Francisco Das&iacute ; ^l ; Amparo Escribano^m ; Iné ; s Herreroⁿ ; Beatriz Mart&iacute ; nez-Delgado^ñ ; ; Francisco Javier Michel^o ; Francisco Rodr&iacute ; guez-Fr&iacute ; as^d ; Marc Miravitlles^d
• 关键词：Registry ; Alpha-1 antitripsin
• 刊名：Archivos de Bronconeumología (English Edition)
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：53
• 期：1
• 页码：13-18
• 全文大小：454 K
• 卷排序：53

文摘

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.MethodsThe 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.ResultsThanks 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.ConclusionsThe 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.