Naslov
Guidelines for Diagnosis, Therapy and Follow Up of Anderson-Fabry Disease

Autori
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

Izvornik
Acta clinica Croatica (0353-9466) 52 (2013), 3; 395-405

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Anderson-Fabry disease ; diagnosis ; treatment

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA