Koji su znakovi I simptomi gaucherove bolesti?
Glavni znakovi i simptomi Gaucherove bolesti su uvećana jetra i slezena, nizak broj trombocita i hemoglobina te problemi s kostima i zglobovima.
Simptomi se mogu razlikovati kod ljudi koji imaju Gaucherovu bolest tip 1. Neki nemaju nikakvih simptoma, ali često se radi o povećanju jetre i slezene te smanjenom broju hemoglobina i trombocita. Osim ovih znakova i simptoma, djeca često imaju odgođeni rast i razvoj.5
Osobe s Gaucherovom bolešću tipa 2 i tipa 3 mogu imati slične znakove i simptome kao i osobe s Gaucherovom bolešću tipa 1, isključujući bolesti kostiju kod bolesti tipa 2. Glavna razlika između navedenih tipova bolesti je u središnjem živčanom sustavu (SŽS).5,6
- Gaucherova bolest tip 1 ne utječe izravno na SŽS, ali oštećenje kosti kralježnice može dovesti do problema s SŽS-om
- Gaucherova bolest tip 2 ima ozbiljne učinke na SŽS. Bolest brzo napreduje i obično je smrtonosna u djetinjstvu (između 2–4 godine).
- Gaucherova bolest tip 3 ima blaži učinak na SŽS, a bolest napreduje sporije nego kod bolesti tipa 2
Reference
- Burrow TA, et al. Prevalence and management of Gaucher disease. Pediatr Health Med Ther 2011;2:59–73.
- Kerem M, et al. Pulmonary function abnormalities in type 1 Gaucher disease. Eur Respir J 1996;9:340–345.
- Haute Autorité de Santé (HAS). Guide for doctors: Long-term conditions. Gaucher disease: National Diagnosis and Treatment Protocol. Paris, France: HAS; 2007.
- Khan A, et al. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J Bone Miner Res 2012;27:1839–1848.
- Nagral A. Gaucher disease. J Clin Exp Hepatol 2014;4:37–50.
- Pastores GM, Hughes DA. Gaucher Disease. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle, Washington: University of Washington, Seattle; 1993–2018. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1269/; Accessed: August 2018.



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