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GUIDELINES FOR DIAGNOSIS, THERAPY AND FOLLOW UP OF ANDERSON-FABRY DISEASE

VANJA BAŠIĆ KES ; Sestre milosrdnice University Hospital Center, Clinical Department of Neurology, Zagreb, Croatia
MARIJAN CESARIK ; Požega General Hospital, Department of Neurology, Požega, Croatia
IRIS ZAVOREO ; Sestre milosrdnice University Hospital Center, Clinical Department of Neurology, Zagreb, Croatia
SILVA SOLDO BUTKOVIĆ ; Osijek University Hospital Center, Department of Neurology, Osijek, Croatia
PETAR KES ; Zagreb University Hospital Center, Department of Nephrology, Arterial Hypertension, Dialysis and Transplantation, Zagreb, Croatia
NIKOLINA BAŠIĆ-JUKIĆ ; Zagreb University Hospital Center, Department of Nephrology, Arterial Hypertension, Dialysis and Transplantation, Zagreb, Croatia
SANJIN RAČKI ; Rijeka University Hospital Center, Department of Nephrology and Dialysis, Rijeka, Croatia
MARKO JAKIĆ ; Osijek University Hospital Center, Department of Dialysis, Osijek, Croatia
DIANA DELIĆ-BRKLJAČIĆ ; Sestre milosrdnice University Hospital Center, Department of Cardiology, Zagreb, Croatia
ZLATICA JUKIĆ ; Osijek University Hospital Center, Department of Dermatology, Osijek, Croatia
ZLATKO TRKANJEC ; Požega General Hospital, Department of Neurology, Požega, Croatia
VESNA ŠERIĆ ; Sestre milosrdnice University Hospital Center, Clinical Department of Neurology, Zagreb, Croatia
VESNA VARGEK SOLTER ; Sestre milosrdnice University Hospital Center, Clinical Department of Neurology, Zagreb, Croatia
IVAN BIELEN ; Sveti Duh University Hospital, Department of Neurology, Croatia
SILVIO BAŠIĆ ; Dubrava University Hospital, Department of Neurology, Zagreb, Croatia
VIDA DEMARIN ; Aviva Medical Center, Zagreb, Croatia

Puni tekst: hrvatski, pdf (338 KB) str. 223-232 preuzimanja: 975* citiraj
APA 6th Edition
BAŠIĆ KES, V., CESARIK, M., ZAVOREO, I., SOLDO BUTKOVIĆ, S., KES, P., BAŠIĆ-JUKIĆ, N., ... DEMARIN, V. (2014). SMJERNICE ZA DIJAGNOSTIKU, LIJEČENJE I PRAĆENJE ANDERSON-FABRYJEVE BOLESTI. Acta medica Croatica, 68 (2), 223-232. Preuzeto s https://hrcak.srce.hr/126939
MLA 8th Edition
BAŠIĆ KES, VANJA, et al. "SMJERNICE ZA DIJAGNOSTIKU, LIJEČENJE I PRAĆENJE ANDERSON-FABRYJEVE BOLESTI." Acta medica Croatica, vol. 68, br. 2, 2014, str. 223-232. https://hrcak.srce.hr/126939. Citirano 08.12.2019.
Chicago 17th Edition
BAŠIĆ KES, VANJA, MARIJAN CESARIK, IRIS ZAVOREO, SILVA SOLDO BUTKOVIĆ, PETAR KES, NIKOLINA BAŠIĆ-JUKIĆ, SANJIN RAČKI, et al. "SMJERNICE ZA DIJAGNOSTIKU, LIJEČENJE I PRAĆENJE ANDERSON-FABRYJEVE BOLESTI." Acta medica Croatica 68, br. 2 (2014): 223-232. https://hrcak.srce.hr/126939
Harvard
BAŠIĆ KES, V., et al. (2014). 'SMJERNICE ZA DIJAGNOSTIKU, LIJEČENJE I PRAĆENJE ANDERSON-FABRYJEVE BOLESTI', Acta medica Croatica, 68(2), str. 223-232. Preuzeto s: https://hrcak.srce.hr/126939 (Datum pristupa: 08.12.2019.)
Vancouver
BAŠIĆ KES V, CESARIK M, ZAVOREO I, SOLDO BUTKOVIĆ S, KES P, BAŠIĆ-JUKIĆ N i sur. SMJERNICE ZA DIJAGNOSTIKU, LIJEČENJE I PRAĆENJE ANDERSON-FABRYJEVE BOLESTI. Acta medica Croatica [Internet]. 2014 [pristupljeno 08.12.2019.];68(2):223-232. Dostupno na: https://hrcak.srce.hr/126939
IEEE
V. BAŠIĆ KES, et al., "SMJERNICE ZA DIJAGNOSTIKU, LIJEČENJE I PRAĆENJE ANDERSON-FABRYJEVE BOLESTI", Acta medica Croatica, vol.68, br. 2, str. 223-232, 2014. [Online]. Dostupno na: https://hrcak.srce.hr/126939. [Citirano: 08.12.2019.]

Sažetak
Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the α-galactosidase A (α-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.

Ključne riječi
Anderson-Fabry disease; diagnosis; treatment

Hrčak ID: 126939

URI
https://hrcak.srce.hr/126939

[hrvatski]

Posjeta: 1.195 *