2009, Número 5
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Rev Med Inst Mex Seguro Soc 2009; 47 (5)
Guía para el diagnóstico, evaluación y tratamiento de la enfermedad de Fabry
Idioma: Español
Referencias bibliográficas: 60
Paginas: 505-514
Archivo PDF: 62.58 Kb.
RESUMEN
La enfermedad de Fabry es poco frecuente y aún desconocida para gran parte de la población general y médica. Presenta grandes dificultades para el diagnóstico; al establecerse éste en forma tardía, los daños son ya importantes y generalmente irreversibles. En años recientes se ha incrementado el conocimiento sobre la enfermedad y en la última década, el desarrollo de una terapia específica ha modificado sensiblemente el pronóstico de estos pacientes. En 2008 se formó el Grupo Mexicano de Especialistas en Enfermedad de Fabry, integrado por médicos mexicanos capacitados para el manejo de estos enfermos; el Grupo decidió desarrollar la presente guía para el diagnóstico, evaluación y tratamiento, con el fin de ampliar el conocimiento del padecimiento en nuestro país y homologar los criterios de manejo.
REFERENCIAS (EN ESTE ARTÍCULO)
Anderson W. A case of angiokeratoma. Br J Dermatol 1898;10:113-117.
Fabry J. Ein Beitrag zur Kenntnis der Purpura Haemorrhagica Nodularis (purpura papulosa hemorrhagica hebrae). Arch Dermatol Syphilis 1898;43:187- 200.
Consenso Mexicano para el Diagnóstico, Evaluación y Tratamiento de las Enfermedades por Depósito Lisosomal, Querétaro, 2005. [En prensa].
Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8(9):539-548.
Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Fabry. Primera actualización: Guía práctica para el estudio, diagnóstico y tratamiento de la enfermedad de Fabry. Rev Nefrol Dialisis Transplant 2007;27(4):159- 170.
Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an underrecognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003; 138(4):338-346.
Wang RY, Lelis A, Mirocha J, Wilcox WR. Hetero-zygous Fabry women are not just carriers but have a significant burden of disease and impaired quality of life. Genet Med 2007;9(1):34-45.
Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol 2002;13(Suppl 2):S134-138.
Branton M, Schiffmann R, Sabnis S, Muray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: Influence of galactosidase activity and genetic mutations on clinical course. Medicine 2002;81(29):122-138.
Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C; Fabry Registry. Nephropathy in males and females with Fabry disease: crosssectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008;23(5):1600-1607.
Ries M, Kim HJ, Zalewski CK, Mastroianni MA, Moore DF, Brady RO, et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 2007;130(1):143-150.
Baccaglini L, Schiffmann R, Brennan MT, Lancaster HE, Kulkarni AB, Brahim JS. Oral and craniofacial findings in Fabry’s disease: a report of 13 patients. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2001;92(4):415-419.
Cable WJ, Kolodny EH, Adams RD. Fabry disease: impaired autonomic function. Neurology 1982;32(5):498-502.
Ortiz A, Oliveira JP, Wanner C, Brenner BM, Waldek S, Warnock DG. Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nat Clin Pract Nephrol [Revista en línea] 2008;4(6):327-336.
Ruiz-de Gauna R, Minguela-Pesquera I, Ocharán-Corcuera J, Gimeno-Martín I, Chena AA. El entorno social de los pacientes en diálisis peritoneal. Nefrologia 2008;(Supl 6):133-136.
Glass RBJ, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ. Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr 2004;28(2):158-168.
Politei JM, Pereyra D, Pérez-Ballester G, Amartino H, Valdez R, Cabrera G. Ecografía renal en 25 pacientes con enfermedad de Fabry: incidencia de patología quística renal. Rev Nefrol Dialisis Transplant 2008;28(1):17-20.
Ries M, Bettis KE, Choyke P, Kopp JB, Austin HA, Brady RO, et al. Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. Kidney Int 2004;66(3):978-982.
Branton M, Schiffmann R, Kopp JB. Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol 2002;13:S139-S143.
Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry’s disease. Arch Opthalmol 1979;97(4):671-676.
Orssaud C, Dufier JL, Germain DP. Ocular manifestations in Fabry disease: a survey 32 hemizygous male patients. Ophthalmic Genet 2003;24(3):129-139.
Nguyen TT, Gin Tm Nicholls K, Low M, Galanos J, Crawford A. Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre. Clin Experiment Ophthalmol 2005;33(2):164-168.
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, et al. Pediatric Fabry disease. Pediatrics 2005;115(3):e344-e355.
Ries M, Kim HJ, Zalewski CK, Mastroianni M, Moore DF, Brady RO, et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 2007;130(Pt 1):143-150.
Conti G, Sergi B. Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females. Acta Paediatr Suppl 2003; 92(443):33-37.
Palla A, Widmer U, Straumann D. Head-impulse testing in Fabry disease-vestibular function in male and female patients. Acta Paediatr Suppl 2003;92 (443):38-42.
Palla A, Hegemann S, Widmer U, Straumann D. Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy. J Neurol 2007;254(10):1433-1442.
Baccaglini L, Schiffmann R, Brennan MT, Lancaster HE, Kulkarni AB, Brahim JS. Oral and craniofacial findings in Fabry’s disease: a report of 13 patients Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2001;92(4):415-419.
Cable WJ, Kolodny EH, Adams RD. Fabry disease: impaired autonomic function. Neurology 1982; 32(5):498-502.
Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr 2004;144(5 Suppl):S20-S26.
MacDermot KD, Holmes A, Miners AH. Anderson- Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38(11):750-760.
Osamu T, Masahito S, Kodo S, Kazuo S, Masahiko M, Shoichi S. Early prenatal diagnosis of inborn error of metabolism: a case report of a fetus affected with Fabry’s disease. Asia Oceania J Obstet Gynaecol 1985;11(1):39-45.
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, et al. Pediatric Fabry disease. Pediatrics 2005;115(3):e344-e355.
Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr 2008;152 (4):563-570.
Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, et al. The early clinical phenotype of Fabry disease: a study on 35 European children an adolescents. Eur J Pediatr 2003;162(11):767-772.
Pintos Morell G. Enfermedad de Fabry: reconocimiento en la edad pediátrica. An Esp Pediatr 2002; 57(1):45-50.
Elleder M, Poupetova H, Kozich V. Fetal pathology in Fabry’s disease and mucopolysacharidosis type I. Cesk Patol 1998;34(1):7-12.
Gubler MC, Lenoir G, Grünfeld JP, Ulmann A, Droz D, Habib R. Early renal changes in hemizygous an heterozygous patients with Fabry´s disease. Kidney Int 1978;13(3):223-235.
Tondel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 2008;51(5):767-776.
Raas-Rothschild A, Friedlaender MM, Pizov G, Backenroth R. The kidney in Fabry disease. J Pediatr 2005;146(1):148.
Elleder M. Sequelae of storage in Fabry disease. Pathology and comparison with other lisosomal storage diseases. Acta Paediatr Suppl 2003;192 (443):S46-S53 [Discussion S45].
Sheth KJ, Roth DA, Adams MB. Early renal failure in Fabry’s disease. Am J Kidney Dis 1983;2(6): 651-654.
Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: influence of α-galactosidase A activity and genetic mutations on clinical course. Medicine 2002;81(2):122-138.
Sheth KJ, Bernhard GC. The arthropathy of Fabry disease. Arthritis Rheum 1979;22(7):781-783.
Morgan P, Rudge SJM, Smith AM, Bronstein BE. The neurological complications of Anderson-Fabry disease (α-galactosidase A deficiency): investigation of symptomatic and presymptomatic patients. Q J Med 1990;75(277):491-507.
Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 2006;29:397-404.
Linthorst GE, Vedder AC, Aerts JM, Hollak CE. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 2005;353(1-2):201-203.
Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alphagalactosidase. J Mol Biol 2004;337(2):319-335.
Ries M, Clarke JT, Whybra C, Timmons M, Robinson C, Schlaggar BL, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 2006;118(3):924-932.
Ramaswami U, Wendt S, Pintos-Morell G, Parini R, Whybra C, Leon Leal JA, et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr 2007;96(1): 122-127.
Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, et al.; International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004;75(1):65-74.
Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, et al.; Fabry Disease Clinical Trial Study Group. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007;146(2):77-86.
Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 2006;69(7): 1216-1221.
Mayes JS, Cray EL, Dell VA, Scheerer JB. Endocytosis of lysosomal alphagalactosidase A by cultured fibroblasts from patients with Fabry disease. Am J Hum Genet 1982;34(4):602-610.
Ries M, Mengel E, Kutschke G, Kim KS, Birklein F, Krummenauer F, Beck M. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis 2003;26(4):413-414.
Schiffmann R, Scott LJ. Patophysiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr Suppl 2002;91(439):48-52.
Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 2007;18(9):2609-2617.
Von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hübner G, Olsen EG, et al. An atypical variant of Fabry’s disease with manifestations confined to the myocardium. N Engl J Med 1991;324(6):395-399.
Argoff CE, Barton NW, Brady RO, Ziessman HA. Gastrointestinal symptoms and delayed gastric emptying in Fabry’s disease: response to metoclopramide. Nucl Med Commun 1998;19(9):8887- 8891.
Stryker VL, Kreps C. Fabry disease. Am J Nurs 2001; 101(4):39-44.