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

VANJA BAŠIĆ KES ; Klinički bolnički centar Sestre milosrdnice, Klinika za neurologiju, Zagreb, Hrvatska
MARIJAN CESARIK ; Opća bolnica Požega, Odjel za neurologiju, Požega, Hrvatska
IRIS ZAVOREO ; Klinički bolnički centar Sestre milosrdnice, Klinika za neurologiju, Zagreb, Hrvatska
SILVA SOLDO BUTKOVIĆ ; Klinički bolnički centar Osijek, Klinika za neurologiju, Osijek, Hrvatska
PETAR KES ; Klinički bolnički centar Zagreb, Klinika za nefrologiju, arterijsku hipertenziju, dijalizu i transplantaciju, Zagreb, Hrvatska
NIKOLINA BAŠIĆ-JUKIĆ ; Klinički bolnički centar Zagreb, Klinika za nefrologiju, arterijsku hipertenziju, dijalizu i transplantaciju, Zagreb, Hrvatska
SANJIN RAČKI ; Klinički bolnički centar Rijeka, Klinika za nefrologiju i dijalizu, Rijeka, Hrvatska
MARKO JAKIĆ ; Klinički bolnički centar Osijek, Klinika za dijalizu, Osijek, Hrvatska
DIANA DELIĆ-BRKLJAČIĆ ; Klinički bolnički centar Sestre milosrdnice, Klinika za kardiologiju, Zagreb, Hrvatska
ZLATICA JUKIĆ ; Klinički bolnički centar Osijek; Klinika za dermatologiju, Osijek, Hrvatska
ZLATKO TRKANJEC ; Opća bolnica Požega, Odjel za neurologiju, Požega, Hrvatska
VESNA ŠERIĆ ; Klinički bolnički centar Sestre milosrdnice, Klinika za neurologiju, Zagreb, Hrvatska
VESNA VARGEK SOLTER ; Klinički bolnički centar Sestre milosrdnice, Klinika za neurologiju, Zagreb, Hrvatska
IVAN BIELEN ; Klinička bolnica Sveti Duh, Klinika za neurologiju, Zagreb, Hrvatska
SILVIO BAŠIĆ ; Klinička bolnica Dubrava, Klinika za neurologiju, Zagreb, Hrvatska
VIDA DEMARIN ; Medicinski centar Aviva, Zagreb, Hrvatska


Puni tekst: hrvatski pdf 338 Kb

str. 223-232

preuzimanja: 1.774

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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

Podaci na drugim jezicima: hrvatski

Posjeta: 2.253 *