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SMJERNICE ZA DIJAGNOSTIKU, LIJEČENJE I PRAĆENJE ANDERSON-FABRYJEVE BOLESTI

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


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Abstract

Fabryjeva bolest (Anderson-Fabryjeva bolest) jedna je od najčešćih lizosomskih bolesti nakupljanja (nakon Gaucherove bolesti) uzrokovana smanjenom aktivnošću enzima α-galaktosidaze A (α -Gal A) uz posljedično nakupljanje globotriaozilceramida u različitim stanicama, ponajprije u endotelnim i vaskularnim glatkim mišićnim stanicama uz posljedične multisistemske manifestacije. Pojavnost bolesti u muškaraca je 1:40.000-60.000, dok je u općoj populaciji oko 1 : 117.000. Bol je najčešće prvi simptom bolesti u 60-80 % djece, kao i simptomi probavnog sustava, oftalmološki simptomi, gubitak sluha. Smanjenje bubrežne funkcije, hipertrofična miokardiopatija ili moždani udar mogu se iskazati kao izolirani simptomi bolesti. U bolesnika s Fabryjevom bolešću skraćuje se očekivani životni vijek i to u muškaraca za oko 20 godina, a u žena za 10-15 godina, pa je stoga uvođenje nadomjesne enzimske terapije nužno u svih bolesnika koji zadovoljavaju kriterije za terapiju ove bolesti bez obzira na dob i spol.

Keywords

Anderson-Fabryjeva bolest, dijagnoza, terapija

Hrčak ID:

126939

URI

https://hrcak.srce.hr/126939

Article data in other languages: english

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