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20 | www.solen.cz Tabulka 2 Možná neurologická symptomatologie u pacientů s GD TYP GD věk – první projevy příznak GD typ I dospělost (30 a více let) periferní neuropatie, Parkinsonova nemoc GD typ II prenatálně hydrops fetalis 0–3 roky zástava vývoje, strabizmus, atypické oční pohyby, retroflexe krku, křeče – myoklonická epilepsie – častá farmakorezistence, bulbár- ní syndrom GD typ III dětství sekundární epilepsie – často myoklonické křeče, atypické pohyby očí, okulomotorická apraxie, zpomalení horizontálních sakád, PM re- tardace, poruchy řeči, učení, nemoci autistického spektra, ADHD dospělost tremor, dystonie, ataxie, demence, psychózy Literatura 1. Biegstraaten M, Mengel E, Maródi L, Petakov M, Niederau C, Giraldo P, Hughes D, Mrsic M, Mehta A, Hollak CE, van Schaik IN. Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study, Brain 2010; 133(10): 2909–2919. 2. Campbell TN, Choy FYM. Gaucher disease and the synucleinopathies: refining the relationship, Orphanet J Rare Dis. 2012; 7: 12. 3. Elstein D, Benistyb J, Klutsteina M, Hadas-Halpema I, Zimran A. Pulmonary arterial hypertension in Gaucher disease: Predic- tors of progression and effect of enzyme replacement therapy, Mol Genet Metab, 2009; 96(2): S23. 4. Fernandez J. Triton: Diagnostika a léčba dědičných metabolických poruch. 2008; 38: 531–533. 5. de Fost M, Langeveld M, Franssen R, Hutten BA, Groener JEM, de Groot E, Mannens MM, Bikker H, Aerts JMFG, Kastelein JJP, Hollak CEM. Low HDL cholesterol levels in type 1 Gaucher disease do not lead to en increased risk of cardiovascular disease, Artherosclerosis, 2008.08.027 6. Gupta N, Oppenheim IM, Kauvar EF, Tayebi N, Sidranski E. Type 2 Gaucher Disease: Phenotypic variation and genotypic he- terogenity, Bloods, Cells, Molecules, and Diseases 2011; 46: 75–84. 7. Grabowski GA. Phenotype, diagnosis and treatment of Gaucher’s disease. Lancet 2008; 372: 1263. 8. Hollak CEM, Hughes D, van Schaik IN, Schwierin B, Bembi B. Miglustat (Zavesca®) in type 1 Gaucher disease: 5-years results of a post-authorisation safety surveillance programme, Pharmacoepidemiology and drug safety, 2009:DOI: 10.1002/pds1779 9. Lo SM, Stein P, Mullalxy S, Bar M, Jain D, Pastores GM, Mistry PK. Expanding spectrum of the association between Type 1 Gau- cher disease and cancer, American Journal of Haematolog, 2010: 340–345. 10. Mehta A. Epidemilogy and natural history of Gaucher´s disease, European Journal of Internal Medicine 2006; 17: S2–S5. 11. Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T. Osteopenia in Gaucher disease develops early in life: Re- sponse to imiglucerase enzyme therapy in children, adolescents and adults; Blood, Cells, Molecules and diseases 2011; 46: 66–72. 12. Mitsui J, Mizuta I, Toyoda A, Aschida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji S. Mutation for Gaucher disease Confer High Susceptibility to Parkinson Disease, Arch. Neurol. 2009; 66(5): 571–576. 13. Poupětová H, Ledvinová J, Berná L, Dvořáková L, Kožich V, Elleder M. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations, J.Inherit. Metab. Dis. 2010; 33: 387–396. 14. Sidranski E. Gaucher disease: insight from a rare Mendelian disorders, Discov Med. 2012; 14(77): 273–281. 15. Rigat B, Mahuran D. Dilthiazem, a L-type Ca 2+ channel blocker, also acts as a pharmacological chaperone in Gaucher pati- ents cells, Molecular Genetics and Metabolism 2009 doi 10.1016/j.ymgme. 2208 12.008. 16. Rosenbloom B, Balwani M, Bronstein JM, Kolodny E, Sathe S, Gwosdow AR, Taylor JS, Cole JA, Zimran A, Weinreb JA. The incidence of Parkinsonism in patients with type 1 Gaucher disease: Data from the ICGG Gaucher Registry, Blood Cells, Mole- cules, and Diseases 2011; 46: 95–102.