Liječnički vjesnik, Vol. 146 No. 5-6, 2024.
Stručni rad
https://doi.org/10.26800/LV-146-5-6-1
Guidelines on diagnosis and treatment of Fabry disease in adult patients
Ivan Pećin
*
Iveta Merćep
Vanja Bašić-Kes
Ervina Bilić
Fran Borovečki
Mirna Bradamante
Maja Čikeš
Ksenija Fumić
Ana Godan Hauptman
Bojan Jelaković
Dunja Leskovar
Kristina Paponja Mihanović
Dražen Perica
Luka Prgomet
Sanjin Rački
Kristina Selthofer-Relatić
Marija Štanfel
Nediljko Šućur
Božidar Vujičić
Tamara Vukić
Željko Reiner
* Autor za dopisivanje.
Sažetak
Anderson-Fabry disease is a metabolic disease of accumulation of glycolipids in lysosomes. A multidisciplinary approach is necessary for early recognition, treatment and prevention of complications in patients. These guidelines are a supplement to the guidelines published by the Reference Center for Rare and Metabolic Diseases in 2014 in the Medical Journal with regard to new diagnostic procedures, markers and therapeutic options, with the cooperation of specialists from centers of excellence and the multidisciplinary team of the Reference Center for Rare and Metabolic Diseases of Adults of the Ministry of Health of the Republic of Croatia. The guidelines were presented at the annual meeting of the Croatian Society for Rare Diseases of the Croatian Medical Association and unanimously accepted.
Ključne riječi
FABRY DISEASE – complications, diagnosis, drug therapy; ALPHA-GALACTOSIDASE – genetics; GLYCOLIPIDS; LYSOSOMES; ENZYME REPLACEMENT THERAPY; CARDIOMYOPATHY, HYPERTROPHIC; RENAL INSUFFICIENCY, CHRONIC; ISCHEMIC STROKE; PRACTICE GUIDELINES AS TOPIC; CROATIA
Hrčak ID:
319957
URI
Datum izdavanja:
8.7.2024.
Posjeta: 0 *