Las enfermedades de depósito lisosomal conforman un grupo de entidades con un perfil de afectación orgánica significativo, con importantes tasas de morbilidad y mortalidad. Actualmente se describen nuevas enfermedades de depósito lisosomal con cierta frecuencia por haberse reconocido su mecanismo fisiopatológico y porque se puede incidir en éstas con terapia de reemplazo enzimático. En 2009, un grupo multidisciplinario de expertos mexicanos en el manejo de la enfermedad de Gaucher se reunió para desarrollar guías de diagnóstico y tratamiento. Este documento presenta la perspectiva y recomendaciones de los expertos del país, de acuerdo con la demografía, los recursos y la realidad epidemiológica en México, un país con más de 100 millones de habitantes.
Vilchez-Padilla JJ. Enfermedades de sistema nervioso por errores metabólicos congénitos. Medicine 2003;8(103):5548-5557.
Beutler E. Gaucher disease as a paradigm of cu-rrent issues regarding single gene mutations of hu-mans. Proc Natl Acad Sci USA 1993;90(12):5384- 5390.
Sidransky E. Gaucher disease and parkinsonism. Mol Genet Metab 2005;84(4):302-304.
Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 2005;35(3):355-364.
Manger B, Menge E, Schaefer R, Haase C, Seidel J, Michels H. Gaucher disease, Fabry disease and mucopolysaccharidosis type I—how can the rheumatologist recognise these patients? Z Rheumatol 2006;65(1):32,34-43.
Beutler E. Discrepancies between genotype and phenotype in hematology: an important frontier. Blood 2001;98(9):2597-2602.
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.
Grabowski GA. Recent clinical progress in Gaucher disease. Curr Opin Pediatr 2005;17(4):519-524.
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.
Mignot C, Doummar D, Maire I, De Villemeur TB. French Type 2 Gaucher Disease Study Group. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev 2006;28(1):39-48.
Sidransky E. Gaucher disease: complexity in a “simple” disorder. Mol Genet Metab 2004;83(1-2):6-15.
Amato D, Stachiw T, Clarke JT, Rivard GE. Gaucher disease: variability in phenotype among siblings. J Inherit Metab Dis 2004;27(5):659-669.
Liou B, Kazimierczuk A, Zhang M, Scott CR, Hegde RS, Grabowski GA. Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. J Biol Chem 2006;281(7):4242-4253.
Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT; International Collaborative Gaucher Group (ICGG). Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004;41(4 Suppl 5):15-22.
Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol 2005;129(2):178-188.
Michelin K, Wajner A, Bock H, Fachel A, Rosenberg R, Pires R, 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.
OMIM. Online Mendelian Inheritance in Man 2009, [base de datos en Internet] USA; Johns Hopkins University; 1995. Disponible en http://www.ncbi. nlm.nih.gov/omim/
HGMD. Human Gene Mutation Database. [base de datos en Internet]. USA: Institute of Medical Genetics in Cardiff; 2005. Disponible en http://www. hgmd.cf.ac.uk/ac/index.php
Pastores GM, Barnett NL. Current and emerging therapies for the lysosomal storage disorders. Expert Opin Emerg Drugs 2005;10(4):891-902.
Pastores GM. Gaucher disease. GeneReviews [base de datos en Internet]. Seattle; University of Washington, 1993. Disponible en http://www.gen etests.org/query?dz=gaucher
Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet 2008;371(9629):2039-2041.
Elstein D, Abrahamov A, Hadas-Halpern I, Zimran A. Withdrawal of enzyme replacement therapy in Gaucher´s disease. Br J Haematol 2000;110 (2):488-492.
Drelichman G, Ponce E, Basack N, Freigeiro D, A-versa L, Graciela E, et al. Clinical consequences of interrupting enzyme replacement therapy in Children whit type I Gaucher disease. J Pediatr 2007; 151(2):197-201.
Weinreb N, Barranger J, Packman S, Prakash-
Cheng A, Rosenbloom B, Sims K, et al. Imigluce-rase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet 2007;71(6):576-588.
Brunel-Guitton C, Rivard GE, Galipeau J, Alos N, Miron MC, Therrien R, et al. Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as main-tenance dosage? Mol Genet Metab 2009;96(2): 73-76.
Cox TM, Aerts JM, Belmatoug N, Capellini MD, von Dahl S, Goldblatt J, et al. Management of non-neuropathic Gaucher disease with special reference to pregnancy, splenectomy, biphos-phonate therapy, use to biomarkers and bone disease monitoring. J Inherit Metab Dis 2008;31 (3):319-336.
Elstein Y, Eisenberg V, Granogvsky-Grisaru S, Rabinowitz R, Samueloff A, Zimran A, et al. Pregnancies in Gaucher disease: a 5 year study. Am J Obstet Gynecol 2004;190(2):435-441.
Rosenbloom BE. Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cáncer incidence: a study from the Gaucher Registry. Blood 2005;105(12):4569-4572
Allen MJ, Myer BJ, Knokher AM, Rushton N, Cox TM. Proinflammatory cytokines and the pathogenesis of Gaucher disease: increased release of interleukin -6 e interleukin-10. QJM 1997;90(1):19-25.
Hollak CE, Evers L, Aerts JM, van Oers MH. Elevated levels of M-CSF, sCD14 and IL-8 in type 1 Gaucher disease. Blood Cells Mol Dis 1997;23(2): 201-212.
Hughes D, Cappellini MD, Berger M, Van Droogen-broeck J, de Fost M, Janic D, et al. Recommen-dations for the management of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol 2007;138(6):676-686.
Taddei TH. Kacena KA, Yang MA, Yan R, Mahhotra A, Boxer M, Aleck KA, et al. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Haematol 2009;84(4):208-214.
Bataille R, Jégo G, Robillard N, Barillé-Nión S, Harousseau JL, Moreau O, et al. The phenotype of normal, reactive and malignant plasma cells. Identification of “many and multiple myelomas“ and of new targets for myeloma therapy. Haematologica 2006;91(9):1234-1240.
de Fost M, Vom Dahi S, Weverling GJ, Brill N, Brett S, Häussinger D, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis 2006;36(1):53- 58.
Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE. Non neuronopathic Gaucher disease recon-sidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucheer disease patients and a systemic review of the literature. J In-herit Metab Dis 2008;31(3):337-349.
Giraldo P, Capablo Liesa JL, Alfonso P, Latre P, García B, Pocovi M. Manifestaciones neurológicas en pacientes con enfermedad de Gaucher y en sus familiares. Med Clin 2008;131(5):175-179.
Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, et al. Genotype–phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 2008;70(24): 2277-2283.
Clark LN, Ross BM, Wang Y, Mejía-Santana H, Harris J, Louis ED, Cote LJ, et al. Mutations in the glucerebrosidase gene are associated with early-onset Parkinson disease. Neurology 2007; 69(123):1270-1277.
Pastores GM, Patel MJ, Firooznia H. Bone an joint complications related to Gaucher disease. Curr Rheumatol Rep 2000;2(2):175-180.
Mankin HJ, Rosenthal DI, Xavier R. Gaucher disease. New approaches to an ancient disease. J. Bone Joint Surg Am 2001;83-A(5):748-762.
Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;16(18):2835-2843.
Moore SG, Dawson KL. Red and yellow marrow in the femur: age-related changes in appearance at MR imaging. Radiology 1990; 175(1):219-223.
Weinreb NJ, Charrow J. The Bone in Gaucher Disease. Am J Med 2002;113:1-7.
Rosenthal DI, Scott JA, Barranger J, Mankin HJ, Saini S, Brady, LK et al. Evaluation of Gaucher disease using magnetic resonance imaging. J. Bone Joint Surg Am. 1986;68(6):802-808.
Rose JS, Graboski GA, Barnett SH, Desnick RJ. Accelerated skeletal deterioration ofter splenecto-my in Gaucher type 1 disease. AJR Am J Roentenol 1982;139(6):1202-1204.