medigraphic.com
Colegio de Medicina Interna de México.

2011, Número 2

<< Anterior Siguiente >>

Med Int Mex 2011; 27 (2)


Enfermedad de Gaucher. Reporte de un caso y revisión de la bibliografía

Martínez ÁI, Rivera TA, Hernández RS, Carranza MJ

Idioma: Español
Referencias bibliográficas: 31
Paginas: 198-208
Archivo PDF: 575.56 Kb.


RESUMEN

Las enfermedades de depósito lisosomal conforman un grupo de padecimientos con un perfil de afectación orgánica significativo, con importantes tasas de morbilidad y mortalidad, que afecta significativamente la calidad de vida de los pacientes. Hoy en día se describen nuevas enfermedades de depósito lisosomal con cierta frecuencia por haberse reconocido su mecanismo fisiopatológico y porque puede modificarse su situación con terapia de reemplazo enzimático.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Vilchez-Padilla JJ. Enfermedades del sistema nervioso por errores metabólicos congénitos. Medicine 2003;8(103):5548- 5557.

  2. Beutler E. Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci 1993;90(12):5384-5390.

  3. Sidransky E. Gaucher disease and parkinsonism. Mol Genet Metab 2005;84(4):302-304.

  4. Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 2005;35(3):355-364.

  5. Manger B, Menge E, Schaefer R, Haase C, et al. Gaucher disease, Fabry disease and mucopolysaccharidosis type I--how can the rheumatologist recognise these patients? J Rheumatol 2006;65(1):32,34-43.

  6. Weinreb NJ, Aggio MC, Andersson HC, Andria G, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004; 41(4 Suppl 5):15-22.

  7. Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol 2005;129(2):178-188.

  8. Michelin K, Wajner A, Bock H, Fachel A, et al. Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers. Clin Chim Acta 2005;362(1-2):101-109.

  9. OMIM. Online Mendelian Inheritance in Man, OMIM. 2009 [cited 2009; Available from: http://www.ncbi.nlm.nih.gov/omim/

  10. Human Genome Mutation Database. 2009 [cited 2009; Available from: http://www.hgmd.cf.ac.uk/ac/index.php.

  11. Pastores GM, Barnett NL. Current and emerging therapies for the lysosomal storage disorders. Expert Opin Emerg Drugs 2005;10(4):891-902.

  12. Pastores GM. Gaucher Disease. GeneReviews 2006 [cited 2006 02/03/2006]; Available from: http://www.genetests.org/ query?dz=gaucher.

  13. Beutler E. Discrepancies between genotype and phenotype in hematology: an important frontier. Blood 2001;98(9):2597-2602.

  14. Accardo A, Bembi B, Pensiero S, Perissutti P. Type 3 Gaucher's disease in a three-year-old child: saccadic eye movements analysis. J AAPOS 2005;9(5): 501-503.

  15. Grabowski GA. Recent clinical progress in Gaucher disease. Curr Opin Pediatr 2005;17(4):519-524.

  16. Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006; 160(6):603-608.

  17. Mignot C, Doummar D, Maire I, De Villemeur TB. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev 2006;28(1):39-48.

  18. Sidransky E. Gaucher disease: complexity in a “simple” disorder. Mol Genet Metab 2004;83(1-2): 6-15.

  19. Amato D, Stachiw T, Clarke JT, Rivard GE. Gaucher disease: variability in phenotype among siblings. J Inherit Metab Dis 2004;27(5):659-669.

  20. Liou B, Kazimierczuk A, Zhang M, Scott CR, et al. Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. J Biol Chem 2006;281(7):4242-453.

  21. Allen MJ. Pro-inflammatory cytokines and the pathogenesis of Gaucher disease: increased release of interleukin -6 e interleukin-10. QJM 1997; 90:19-25.

  22. Hollak CE. Elevated levels of M-CSF, sCD14 and IL-8 in type 1 Gaucher disease. Blood cells Mol Dis 1997;23:201-212.

  23. Derralynn H. Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol 2007;138:676-686.

  24. De Fost M. Increase incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol and Dis 2006;36:53-58.

  25. Biegstraaten M, van Schaik IN, Aerts JMFG, Hollak CEM. Non. Neuronopathic Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucheer disease patients and a systemic review of the literature. J Inherit Metab Dis 2008;31:337-349.

  26. Giraldo P, Capablo JL, Alfonso P, Latre P, et al. Manifestaciones neurológicas en pacientes con enfermedad de Gaucher y en sus familiares. Med Clin (Barc) 2008;131(5):175-179.

  27. Gan-Or Z, Giladi N, Rozovski U, Shifrin C, et al. Genotype–phenotype correlations between GBA mutations and Parkinsondisease risk and onset. Neurology 2008;70:2277-2283.

  28. Clark LN, Ross BM, Wang Y, Mejía-Santana H, et al. Mutations in the glucerebrosidase gene are associated with early-onset Parkinson disease. Neurology 2007;69:1270-1277.

  29. Pastores GM, Patel MJ, Firooznia H. Bone and joint complications related to Gaucher disease. Curr Rheumatol Rep 2000;2:175-180.

  30. Mankin HJ, Rosenthal DI, Xavier R. Gaucher disease. New approaches to an ancient disease. J Bone Joint Surg Am 2001;83-A:748-762.




2020     |     www.medigraphic.com