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.

Types of Gaucher Disease

Uzrokovan je nedostatkom ili manjkavošću enzima koji se naziva „glukocerebrozidaza“.1U 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.

Koji su znakovi i simptomi Gaucherove bolesti?

1. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008 Oct 4;372(9645):1263-71.
2. Charrow J. The Gaucher Registry: Demographics and Disease Characteristics of 1698 patients with Gaucher disease. Archives of Internal Medicine 2000;160:2835-2843
Nadamo se kako će ovaj letak odgovoriti na pitanja o nasljeđivanju Gaucherove bolesti.
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Pogledajte kratki video o uzrocima Gaucherove bolesti.
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U ovom videu, bolesnici koji boluju od Gaucherove bolesti govore o tome kako im je bolest dijagnosticirana.
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Što su lizosomske bolesti nakupljanja?
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Posjetite Spotlight on Gaucher YouTube kanal kako biste pogledali informativne video priloge te priče bolesnika i njihovih obitelji o Gaucherovoj bolesti.
How is Gaucher disease diagnosed?
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Preuzmite brošuru o Gaucherovoj bolesti radi korisnih informacija.

The information on this website is intended only to provide knowledge of Gaucher disease health topics. This information should not be used in place of advice from your GP or other healthcare professional. If in doubt please contact your doctor for advice.

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Download the Gaucher disease toolkit for helpful information and questions to discuss with your doctor.
Symptoms Infographic