Gutiérrez-Amavizca BE, Figuera LE

Idioma: Español
Referencias bibliográficas: 34
Paginas: 177-181
Archivo PDF: 275.28 Kb.

RESUMEN

La enfermedad de Fabry es una alteración por depósito lisosomal debida a la deficiencia de enzima α-galactosidasa A, que hidroliza globotriaosilceramida y ocasiona su acumulación en las células y tejidos del organismo. Los varones con fenotipo clásico presentan angioqueratomas, acroparestesias, hipohidrosis y córnea verticilata de inicio en la infancia, con disminución marcada de la supervivencia. La muerte ocurre entre la cuarta y quinta décadas de la vida como consecuencia de las complicaciones renales, cardiovasculares y cerebrovasculares. Las mujeres con un espectro amplio en la severidad de la enfermedad pueden permanecer asintomáticas o padecer los síntomas clásicos que manifiestan los varones. En la actualidad, el tratamiento es con terapia de reemplazo enzimático. El objetivo de esta revisión es presentar una perspectiva actual y los progresos en la enfermedad de Fabry.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Andrikos E, Iatrou C, Boletis JN, et al. Evolution of Fabry disease in male patients: The Greek experience. Clin Nephrol 2010;73:58-63.

2. Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr 2004;144:S20-S26.

3. Fabry H. An historical overview of Fabry disease. J Inherit Metab Dis 2002;24;3-7.

4. Brouns R, Thijs V, Eyskens F, et al. Prevalence of Fabry Disease in a Cohort of 1000 young patients with cerebrovascular disease. Stroke 2010;41:863-868.

5. Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005;366:1794-1796.

6. Martins AM, D'Almeida V, Kyosen SO, et al. Guidelines to Diagnosis and Monitoring of Fabry. J Pediatr 2009;155:S19-31.

7. Pinto LC, Vieira TA, Giugliani R, et al. Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. Orphanet J Rare Dis 2010;5:14.

8. Hughes D. Early intervention in females with Fabry disease? Acta Paediatr 2008; 97:41-47.

9. Kornreich R, Bishop DF, Desnick RJ. The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease. Trans Assoc Am Physicians 1989;102:30-43.

10. MacDermot KD, Holmes A, Miners A. Anderson-Fabry disease clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38:750-760.

11. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-346.

12. Schaefer E, Mehta A, Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr 2005;94:87-92.

13. Rombach SM, Dekker N, Bouwman MG, et al. Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta 2010;1802:741-748.

14. Filoni C, Caciotti A, Carraresi L, et al. Functional studies of new GLA gene mutations leading to conformational fabry disease. Biochim Biophys Acta 2010;1802:247-252.

15. Garman S, Garboczi D. The Molecular Defect Leading to Fabry Disease: Structure of Human α- Galactosidase. J Mol Biol 2004;337:319-335.

16. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001;3733-3774.

17. Lyon MF. Gene action in the X-chromosome of the mouse. Nature 1961;190:372-373.

18. Laney DA, Fernhoff PM. Diagnosis of Fabry Disease via Analysis of Family History. J Genet Counsel 2008;17:79-83.

19. Mehta A, Widmer U. Natural history of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford Pharma Genesis, 2006;183-188.

20. Torvin Møller A, Winther Bach F, Feldt-Rasmussen U, et al. Functional and structural nerve fiber findings in heterozygote patients with Fabry disease. Pain 2009;145: 237-245.

21. Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008;64:550-555.

22. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;22;5:30.

23. Kolodni E, Pastores G. Anderson Fabry disease: Extrarrenal, neurologic manifestations. J Am Soc Nephrol 2002;13:S150-S153.

24. Clark J. Narrative Review: Fabry Disease. Ann Intern Med 2007;146:425-433.

25. Morier A, Minteer J, Tyszko R, et al. Ocular manifestations of Fabry disease within in a single kindred. Optometry 2010;81:437-449.

26. Hajioff D, Enever Y, Quiney R, et al. Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy. J Inherit Metab Dis 2003;26:787-794.

27. Sakurai Y, Kojima H, Shiwa M, et al. The hearing status in 12 female and 15 male Japanese Fabry patients. Auris Nasus Larynx 2009;627-632.

28. O’Mahony C, Elliott P. Anderson-Fabry Disease and the Heart. Prog Cardiovasc Dis 2010; 52:326-335.

29. Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009;24:2102-2111.

30. Barbey F, Brakch N, Linhart A, et al. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol 2006;26:839-844.

31. Arias Martínez N, Barbado Hernández F, García Consuegra F, et al. Fabry’s disease: long-term study of a family. Eur J Intern Med 2004;15: 210-215.

32. Marchesoni C, Roa N, Pardal A, et al. Misdiagnosis in Fabry Disease. J Pediatr 2010;156:828-831.

33. Eng CM, Banikazemi M, Gordon R, et al. A phase clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001;68:711-722.

34. Schiffmann R, Martin R, Reimschisel T, et al. Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease. J Pediatr 2010;156: 832-837.