MEDIX, God. 25 Br. 139/140  •  Pregledni članak  •  Rijetke bolesti HR ENG

Anderson-Fabryjeva bolest u odraslihAnderson - Fabry disease in adults

Vanja Bašić Kes, Petar Kes

Dijagnoza Anderson-Fabryjeve bolesti (AFB) zahtijeva odlično poznavanje te bolesti i vrlo osnovanu kliničku sumnju, detaljan fizikalni pregled, laboratorijske i slikovne preglede za pojedine organe, a potvrđuje se nalazom bitno smanjene aktivnosti enzima α-Gal A homozigotnih muškaraca i tipizacijom gena u heterozigotnih žena. Enzimska nadomjesna terapija (ENT), oralna terapija šaperonom i ciljano liječenje poremećaja pojedinih organskih sustava može dovesti do bitnoga kliničkoga poboljšanja. Uspjeh u liječenju bolesnika s AFB-om ovisi o personaliziranom pristupu skrbi o bolesnicima (odražava fenotip genske bolesti), sveobuhvatnoj procjeni oštećenja organa prije početka liječenja ENT-om ili šaperonom, odgovor na terapiju, kao i temeljitu prosudbu možebitnih oštećenja organa asimptomatskih bolesnika. Bolesnike treba istodobno liječiti zbog za organ specifičnih oštećenja. Unatoč znatnom napretku u liječenju i skrbi o bolesnicima s AFB-om, potrebno je dodatno pojasniti patofiziologiju bolesti i odrediti idealni trenutak za početak liječenja bolesnika različitih fenotipova

Ključne riječi:
α-galaktozidaza A; Anderson-Fabryjeva bolest; dijagnoza; globotriaosilceramid; nadomjesna enzimska terapija; multisustavni poremećaji; praćenje; šaperonska terapija

Članak u cijelosti pročitajte u tiskanom izdanju MEDIX, God. 25 Br. 139/140

Diagnosis of Anderson-Fabry disease (AFB) requires deep knowledge of the disease and very well justified clinical suspicion, detailed physical examination, laboratory and imaging examinations of particular organs, and is confirmed by the finding of significantly reduced α-Gal A enzyme activity in homozygous men and gene typing in heterozygous woman. Enzyme replacement therapy (ENT), oral chaperone therapy, and targeted treatment of disorders of particular organ systems may all lead to significant clinical improvement. Success in the treatment of patients with AFB depends on a personalized approach to patient care (reflecting the phenotype of the genetic disease), a comprehensive assessment of organ damage before treatment with ENT or chaperone, response to the therapy, and a thorough assessment of possible organ damage in asymptomatic patients. Patients should be simultaneously treated for organ-specific lesions. Despite significant advances in the treatment and care of AFB patients, there is a need for further explanation of the disease pathophysiology as well as determination of the ideal time for the onset of the treatment of patients with different phenotypes.

Key words:
α-galactosidase A; Anderson-Fabry disease; diagnosis; globotriaosilceramid; enzyme replacement therapy; multisystem disorders; tracking; chaperone therapy