Ríos GBBE, Saldarriaga RLM, Valdetaro BB

Idioma: Español
Referencias bibliográficas: 12
Paginas: 395-399
Archivo PDF: 655.46 Kb.

RESUMEN

La enfermedad de Anderson-Fabry es una enfermedad genética, de carácter hereditario, que causa la deficiencia o ausencia de la enzima alfa-galactosidasa llevando al acúmulo de globotriacilceramida en diversas células causando sus manifestaciones clínicas, siendo considerada la segunda enfermedad de depósito mas común después de la enfermedad de Gaucher. Describimos el caso de un paciente que presentó manifestaciones musculoesqueléticas compatibles con la enfermedad de Fabry.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Boggio P, Luna PC, Abad ME, Larralde M, Fabry disease, An Bras Dermatol. 2009;84(4):367-76.

2. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967; 276(21):1163-67.

3. Hauser AC, Lorenz M, Sunder-Plassmann G. The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy, J Int Medicine 2004;255(6):629-36.

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

5. Germain DP, Benistan K, Boutouyrie P, Mutschler C. Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet 2005;68:93–5.

6. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34(3):236-42.

7. Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 2004; 337(2):319-35.

8. Martins AM, Almeida V, Kyosen AO, Takata ET, Delgado AG, Gonçalves AMBF, et al. Guidelines to Diagnosis and monitoring of Fabry Disease and Review of Treatment Experiences, The J of Pediatrics. 2009;155(4):19-31.

9. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-46.

10. Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol 2002;13 Suppl 2):S134-8.

11. 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):750-60.

12. Sacre K, Lidove O, Leprieur BG, Ouali N, Laganier J, Caillaud C, Papo T, Bone and joint involviment in fabry disease, Scand J Rheumatol. 2010;39(2):171-4.