Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease (CROSBI ID 203759)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Bašić Kes, Vanja ; Cesarik, Marijan ; Zavoreo, Iris ; Butković Soldo, Silva ; Kes, Petar ; Bašić- Jukić, Nikolina ; Rački, Sanjin ; Jakić, Marko ; Delić-Brkljačić, Diana ; Jukić, Zlatica ; Trkanjec, Zlatko ; Šerić, Vesna ; Solter Vargek, Vesna ; Bielen, Ivan ; Bašić, Silvio ; Demarin, Vida
engleski
Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease
Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the alpha-galactosidase A (alpha-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40, 000 to 60, 000 in males, and 1:117, 000 in the general population. Pain is usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss. Renal failure, hypertrophic cardiomyopathy, or stroke as the presenting symptom may also be found even as isolated symptoms of the disease. Life expectancy is reduced by approximately 20 years in males and 10- 15 years in females, therefore enzyme replacement therapy should be introduced in patients of any age and either sex, who meet treatment criteria for Anderson-Fabry disease.
Anderson-Fabry disease ; diagnosis ; treatment
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o izdanju
Povezanost rada
Kliničke medicinske znanosti, Temeljne medicinske znanosti