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

Gaucherova bolest – pravodobno prepoznavanje bolesti i važnost testiranjaGaucher disease – timely disease recognition and the importance of testing

Nadira Duraković

Gaucherova bolest je nasljedna bolest iz skupine lizosomskih bolesti nakupljanja. Smanjena aktivnost enzima β-glukocerebrozidaze dovodi do nakupljanja substrata glukozilceramida i glukozilsfingozina u makrofagima te, posljedično, do razvoja splenomegalije, trombocitopenije, hepatomegalije i osteoporoze, fraktura te avaskularne nekroze zglobova. Godišnja incidencija u općoj populaciji je 1 : 60.000, dok stvarno identificiranih osoba ima znatno manje od očekivanoga. Mogući razlog je manje izražena klinička slika nekih bolesnika, no svakako veliku ulogu ima neprepoznavanje oboljelih. Stoga je bitno sve bolesnike koji imaju splenomegaliju, osobito ako je udružena s trombocitopenijom i koštanim bolovima, testirati na Gaucherovu bolest. Za liječenje Gaucherove bolesti dostupna je terapija i u interesu je svih oboljelih da što prije budu dijagnosticirani te da započnu terapiju čim za to budu imali indikaciju, kako bi im se unaprijedila kvaliteta života te produljilo očekivano trajanje života.

Ključne riječi:
enzimska nadomjesna terapija; Gaucherova bolest; lizosomska bolest nakupljanja; makrofag; terapija redukcije supstrata

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

Gaucher disease is a hereditary disease of the lysosomal storage diseases group. Reduced activity of β-glucocerebrosidase enzyme leads to the accumulation of glucosylceramide and glucosylphingosine substrates in macrophages and, consequently, to the development of splenomagaly, thrombocytopenia, hepatomegaly, osteoporosis, fractures and avascular necrosis of the joints. The incidence in the general population is 1: 60.000, while the number of really detected persons is significantly less than expected. A possible reason in some patients is less pronounced clinical presentation, yet not recognizing the diseased is certainly of great importance. Therefore, it is important that all the patients with splenomegaly, especially if associated with thrombocytopenia and bone pain, be tested for Gaucher disease. Therapy for the treatment of Gaucher disease is available and it is in the interest of all the patients to be diagnosed as soon as possible and to start therapy as soon as they have an indication, in order to improve their quality of life and extend their life expectancy.

Key words:
enzyme replacement therapy; Gaucher disease; lysosomal storage disease; macrophage; substrate reduction therapy