Objetivo de Aprendizaje:
- Incrementar el conocimiento con respecto a la presentación clínica de la Enfermedad de Gaucher.
- Mejorar su habilidad para realizar diagnóstico diferencial con otras enfermedades de presentación clínica similar.
Referencias:
- Carbajal RL, et al. Enfermedad de Gaucher. Estudio de 14 niños. Acta Pediatr Méx 2002;23(2):73-80. http://repositorio.pediatria.gob.mx:8180/bitstream/20.500.12103/1514/1/ActPed2002_14.pdf
- Beutler, E. and Grabowski, G.A. (2001) Gaucher disease. In: Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D., Eds., The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, 3635-3668.
- Andrade CM, et al. Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease. Orphanet J Rare Dis. 2017 May 3;12(1):84. https://pmc.ncbi.nlm.nih.gov/articles/PMC5415726/
- Mistry KP, et al. Consequences of Diagnostic Delays in Type 1 Gaucher Disease: The Need for Greater Awareness Among Hematologists-Oncologists and an Opportunity for Early Diagnosis and Intervention. Am J Hematol. 2007 Aug;82(8):697-701. https://onlinelibrary.wiley.com/doi/10.1002/ajh.20908
- Motta I, et al. A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia. Eur J Haematol. 2016 Apr;96(4):352-9. https://onlinelibrary.wiley.com/doi/10.1111/ejh.12596