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- Title
Postępowanie w chorobie Fabry'ego - stanowisko Zarządu Głównego Polskiego Towarzystwa Nefrologicznego.
- Authors
NOWICKI, Michał; ADAMCZAK, Marcin; CIECHANOWSKI, Kazimierz; DĘBSKA-ŚLIZIEŃ, Alicja; DURLIK, Magdalena; GELLERT, Ryszard; KRAJEWSKA, Magdalena; MAŁYSZKO, Jolanta; MASAJTIS-ZAGAJEWSKA, Anna; OKO, Andrzej; PAWLACZYK, Krzysztof; RUTKOWSKI, Bolesław; SUŁOWICZ, Władysław; WAJDLICH, Małgorzata
- Abstract
Fabry's disease is a chromosome X-related storage disorder caused by the mutations in the GLA gene leading to a deficiency of galactosidase A activity, accumulation of glycosphingolipids and thereby to life-threatening complications. Clinical symptoms may present as two characteristic images, i.e. classic associated with a complete absence of activity of a-galactosidase A or late onset, associated with a partial deficiency of a-galactosidase A activity. In addition to cardiac and neurological complications, renal complications occur in most patients leading to reduces quality of life of patients and are the key factors of mortality associated with Fabry's disease. The European consensus of experts in Fabry disease, published in 2018, defined the goals of the management of kidney disease. The international guidelines for the therapy have recognized the use of the enzyme replacement therapy (ETZ) as an optimal management of Fabry's disease. The statement of the Polish Society of Nephrology provides the recommendation for the diagnosis and management of kidney complications in Fabry's disease adopted for the local healthcare system.
- Publication
Polish Nephrology & Dialyzotherapy / Nefrologia i Dializoterapia Polska, 2019, Vol 23, Issue 1, p16
- ISSN
1429-1029
- Publication type
Article