Znaczenie rejestrów w badaniach dotyczących chorób rzadkich – omówienie i przegląd europejskich rejestrów pacjentów z niedoborem alfa-1 antytrypsyny (AATD) / Importance of registries in research of rare diseases – discussion and review of European registries of patients with alpha-1 antitrypsin deficiency (AATD)
Keywords:
Authors
Abstract:
Alpha 1-antitrypsin deficiency is an inherited disease characterized by a low concentration or a non-functional form of the serum alpha-1 antitrypsin (AAT)
proteinase inhibitor. AAT deficiency (AATD) renders high susceptibility of lung tissue to noxious substance both endogenous and inhaled, and its damage,
which ultimately leads to variety of respiratory disorders, for example premature emphysema. Although the disease is relatively frequent, awareness and
knowledge about it in the general population and in the medical community is still insufficient, also due to the non-specific symptomatology of AATD. The
solution to the problem is creation of national registries of patients with alpha-1 antitrypsin deficiency, that have been established for several years. Their
goal is to collect the most comprehensive clinical information on the course of AATD, risk factors, and treatment, which provides the opportunity to perform
clinical, statistical analyses of a relatively large population. However, a coordinated effort is needed, which has been the rationale for the implementation
of the European Alpha-1 Clinical Research Collaboration (EARCO) project, linking together national European AATD registries, offering a much comprehensive
AAT research effort. The aim of this paper is to present the European AATD registries and their relevance to research on alpha-1 antitrypsin deficiency.
Standardy Medyczne/Pediatria 2021 T. 18 465-472
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