Što je Gaucherova bolest?
Gaucherova bolest je rijedak genetski poremećaj iz skupine koja se naziva lizosomske bolesti nakupljanja. To je nasljedni poremećaj koji proizlazi iz nakupljanja masnih molekula u tjelesnim organima i tkivima, a koje se nazivaju cerebrozidi.
Uzrokovan je nedostatkom ili manjkavošću enzima koji se naziva „glukocerebrozidaza“.1 U osoba s Gaucherovom bolešću, gen koji bi inače omogućio proizvodnju ovog enzima je izmijenjen (često se naziva mutacija gena).
Glavni znakovi i simptomi su uvećana jetra i slezena, nizak broj trombocita i hemoglobina te problemi s kostima i zglobovima.
Simptomi Gaucherove bolesti uvelike variraju i ima mnogo ljudi koji žive bez ikakvih simptoma.
Izraženi postoci za tipove bolesti 1–3 prikazani u dijagramu temelje se na podacima iz cijelog svijeta,2 ali veći postotak pacijenata je pogođen Gaucherovom bolešću tipa 2 i 3 na području Bliskog istoka i u azijskim zemljama (uključujući Kinu i Japan).3 Na primjer, studija provedena u Pekingu (Kina) pokazala je da je 15% osoba s Gaucherovom bolešću imalo tip 2, a 27% je imalo tip 3.4
Reference
- Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008;372:1263–1271.
- Charrow J, et al. The Gaucher Registry: Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:2835–2843.
- Tantawy AAG, et al. Results from a 12-month open-label phase 1/2 study of velaglucerase alfa in children and adolescents with type 3 Gaucher disease. J Inborn Errors Metab Screen 2018;6:1–5.
- Zhang 2009



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