XII. Apéndice: guía práctica para realizar infusiones y manejo <strong>de</strong> las reacciones adversas. Medicación antes <strong>de</strong> tratamiento: 1 hora pre-infusión: - Paracetamol 2 comp. <strong>de</strong> 500 mg. V.O. - Ataraxone 1 comp <strong>de</strong> 25 mg V.O. - Control <strong>de</strong> Signos vitales (TA/FC/FR/Tº) - En caso <strong>de</strong> que el paciente experimente fiebre o escalofríos se usará ibuprofeno 1 comp 400 mg V.O. para las próximas infusiones. Manejo <strong>de</strong> reacciones <strong>de</strong> hipersensibilidad C. REACCIONES SEVERAS Disnea severa Obstrucción <strong>de</strong> la vía aérea. Arritmias Hipotensión Colapso cardiovascular 1. Detener inmediatamente la infusión. 2. Adrenalina 1:1000 – 0,30 – 0,50 ml S.C. en extremidad superior . 3. Difenhidramina 50 mg IV 4. Hidrocortisona 100 mg IV 5. Para síntomas respiratorios – β2 agonistas (salbutamol) (Inhalatorio/nebulización) 6. Para disnea severa con cianosis o sibilancias → Oxígeno por máscara o bigotera. 7. Manejar volumen <strong>de</strong> fluidos 8. RCP A) REACCIONES LEVES Sensación <strong>de</strong> calor Lagrimeo ocular Congestión nasal Urticaria menor o localizada (
XIII. Bibliografía 1. Argoff CE, Barton NW, Brady RO, Ziesmann HA. Gastrointestinal symptoms and <strong>de</strong>layed gastric emptying in <strong>Fabry</strong>’s disease: Response to metocloprami<strong>de</strong>. Nucl Med Commun 1998; 19: 887-891. 2. Alroy J, Sabnis S, Kopp JB. Renal pathology in <strong>Fabry</strong> disease. J Am Soc Nephrol. 2002;13 Suppl 2:S134-8. 3. Banikazemi M, Bultas J, Wal<strong>de</strong>k S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ; <strong>Fabry</strong> Disease Clinical Trial Study Group. Agalsidase-beta therapy for advanced <strong>Fabry</strong> disease: a randomized trial. Ann Intern Med. 2007 Jan 16;146(2):77-86. 4. Bennett RL, Hart KA, Rourke EO, Barranger JA, Jonson J, MacDermont KD, Pastores GM, Steiner RD, Thadhani R. <strong>Fabry</strong> disease in genetic counselling practice: recommendations of the national society of genetic counsellors. J Genet Counsel 2002; 11: 121-146. 5. Bierer G, Kamangar N, Balfe D, Wilcox WR, Mosenifar Z. Cardiopulmonary Exercise Testing in <strong>Fabry</strong> Disease. Respiration 2005;72:504–511 6. Birklein F. Mechanisms of neurophatic pain and their importance in <strong>Fabry</strong> disease. Acta Paediatr Suppl 2002; 439: 34-37. 7. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic <strong>de</strong>fect in <strong>Fabry</strong>´s disease. Cerami<strong>de</strong>trihexosidase <strong>de</strong>ficiency. N Engl J Med. 1976; 276: 1163-1167. 8. Branton M, Schiffmann R, Kopp JB. Natural history and treatment of renal involvement in <strong>Fabry</strong> disease. J Am Soc Nephrol. 2002;13 Suppl 2:S139-43. 9. Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, Goldfarb L, Brady RO, Balow JE, Austin Iii HA, Kopp JB. Natural history of <strong>Fabry</strong> renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;8: 122-38. 10. Brown LK, Miller A, Bhuptani A, Sloane MF, Zimmerman MI, Schilero G, Eng CM, Desnick RJ. Pulmonary involvement in <strong>Fabry</strong> disease. Am J Respir Crit Care Med 1997; 155:1004-10 11. Cable WJ, Kolodny EH, Adams RD. <strong>Fabry</strong> disease: impaired autonomic function. Neurology 1982; 32: 498-502. 12. Chamoles NA, Blanco M, Gaggioli D. <strong>Fabry</strong> disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001; 308: 195-196 13. Chowdhury MM, Holt PJ. Pain in An<strong>de</strong>rson-<strong>Fabry</strong> disease. Lancet 2001; 357: 887. 14. Cleeland CS. Pain assessment: the adventages of using pain scales in lysosomal storage diseases. Acta Paediatr Suppl 2002; 439: 43-47. 15. Clinical Practice Gui<strong>de</strong>lines for Chronic Kidney Disease: Evaluation, Classification, and Stratification. Part 4. Definition and classification of stages of chronic kidney disease. Am J Kidney Dis 39:S46-S75, 2002 (suppl 1). 16. Clinical Practice Gui<strong>de</strong>lines for Chronic Kidney Disease: Evaluation, Classification, and Stratification Part 5. Evaluation of laboratory measurements for clinical assessment of kidney disease. Gui<strong>de</strong>line 4. Estimation of GFR . Disponible en http://www.kidney.org/professionals/KDOQI/ gui<strong>de</strong>lines_ckd/toc.htm. 17. Conti G, Sergi B. Auditory and vestibular findings in <strong>Fabry</strong> disease: a study of hemizygous males and heterozygous females. Acta Paediatr Suppl. 2003;92:33-7. 18. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W. <strong>Fabry</strong> disease: enzymatic diagnosis of hemizygotes and heterozygotes α-galactosidase activities in plasma, serum, urine and leukocytes. J Lab Clin Med 1973; 81: 157-171 19. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A <strong>de</strong>ficiency: <strong>Fabry</strong> disease. In: Scriver CR, Beau<strong>de</strong>t AL, Sly WS, Valle D, eds. The metabolic bases of Inherited Disease. 8th ed. New York: MacGraw-Hill; 2001: 3733-3774 20. Desnick RJ, Brady RO, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowsky GA, Packman S, Wilcox WR. <strong>Fabry</strong> Disease, an un<strong>de</strong>r-recognized multisystemic disor<strong>de</strong>r: expert recommendations for diagnosis, management and enzyme replacement therapy. Ann Intern Med 2003; 38: 338-346. 21. Devereux RB, Alonso DR, Lutas EM, Gottlieb GJ, Campo E, Sachs I, Reichek N. Ecocardiography assessment of left ventricular hypertrophy: comparison to necropsy findings. Am J of Cardiol 1986; 57:459-8 22. De Schoenmakere G, Chauveau D, Grunfeld JP. Enzyme replacement therapy in An<strong>de</strong>rson-<strong>Fabry</strong>’s disease: beneficial clinical effect on vital organ function. Nephrol Dial Transplant. 2003 ;18:33-5. 23. Dominguez RO, Amartino H, Chamoles NA, Grupo <strong>de</strong> Estudio <strong>de</strong> la <strong>Enfermedad</strong> <strong>de</strong> <strong>Fabry</strong> G. Neuropathic pain in <strong>Fabry</strong>’s disease: heterogeneous remission in three years of enzyme replacement therapy. Rev Neurol. 2006 Aug 16-31;43:201-6. 24. Dütsch M, Marthol H, Stemper B, Brys M, Haendl T, Hilz JM. Small fiber dysfunction predominates in <strong>Fabry</strong> neuropathy. J Clin Neuroph 2002; 19: 575-586. 25. Eng CM, Gurron N, Wilcox WR, Germain DP, Lee P, Wal<strong>de</strong>k S, et al. Safety and efficacy of recombinant human α-galactosidase A-replacement therapy in <strong>Fabry</strong>´s disease. N Engl J Med. 2001; 345:9-16. 26. Eng CM, Fletcher J, Wilcox WR, Wal<strong>de</strong>k S, Scott CR, Sillence DO, Breunig F, Charrow J, Germain DP, Nicholls K, Banikazemi M. <strong>Fabry</strong> disease: baseline medical characteristics of a cohort of 1765 males and females in the <strong>Fabry</strong> Registry. J Inherit Metab Dis. 2007 Apr;30(2):184-92 27. Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. <strong>Fabry</strong> disease: gui<strong>de</strong>lines for the evaluation and management of multi-organ system involvement. Genet Med. 2006 ;8(9):539-48. 28. Eto Y, Ohashi T, Utsunomiya Y, Fujiwara M, Mizuno A, Inui K, Sakai N, Kitagawa T, Suzuki Y, Mochizuki S, Kawakami M, Hosoya T, Owada M, Sakuraba H, Saito H. Enzyme replacement therapy in Japanese <strong>Fabry</strong> disease patients: the results of a phase 2 bridging study. J Inherit Metab Dis. 2005;28:575-83. 29. Fellgiebel A, Mazanek M, Whybra C, Beck M, Hartung R, Muller KM, Scheurich A, Dellani PR, Stoeter P, Muller MJ. Pattern of microstructural brain tissue alterations in <strong>Fabry</strong> disease A diffusion-tensor imaging study. J Neurol. 2006; 6: 1-8 30. Filling-Katz MR, Merrick HF, Finf JC, Miles RB, Sokol J, Barton NW. Carbamacepine in <strong>Fabry</strong>’s disease: effective analgesia with dose-<strong>de</strong>pen<strong>de</strong>nt exacerbation of autonomic dysfunction. Neurology 1989; 39: 598-600. 31. Germain DP, Wal<strong>de</strong>k S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Ved<strong>de</strong>r AC, Abichandani R, Wilcox WR, Guffon N. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with <strong>Fabry</strong> disease. J Am Soc Nephrol. 2007 May;18(5):1547-57. 32. Germain DP, Avan P, Chassaing A, Bonfils P. Patients affected with <strong>Fabry</strong> disease have an increased inci<strong>de</strong>nce of progressive hearing loss and sud<strong>de</strong>n <strong>de</strong>afness: an investigation of twenty-two hemizygous male patients. BMC Med Genet. 2002 ;3:1-10 33. Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ. <strong>Fabry</strong> 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 ;28:158-68. 34. Gomez I, Nora DB, Becker J, Ehlers JAC, Schwartz IVD, Giugliani R, et al. Nerve conduction studies, electromyography and sympathetic skin response in <strong>Fabry</strong>’s disease. J Neurol Scien 2003; 214: 21-25. 35. Gordon KE, Ludman MD, Finley GA. Succesful treatment of painful crises of <strong>Fabry</strong> disease with low dose morphine. Paediatr Neurol 1995; 12: 250-251. 36. Grunfeld JP, Lidove O, Joly D, Barbey F. Renal disease in <strong>Fabry</strong> patients. J Inherit Metab Dis. 2001;24 Suppl 2:71-4. 37. Hajioff D, Enever Y, Quiney R, Zuckerman J, Mackermot K, Mehta A. Hearing loss in <strong>Fabry</strong> disease: the effect of agalsidase alfa replacement therapy. J Inherit Metab Dis. 2003;26:787-94. 38. Hegemann S, Hajioff D, Conti G, Beck M, Sun<strong>de</strong>r-Plassmann G, Widmer U, Mehta A, Keilmann A. Hearing loss in <strong>Fabry</strong> disease: data from the <strong>Fabry</strong> Outcome Survey. 2006 Sep;36(9):654-62 39. Hilz MJ, Brys M, Marthol H, Stemper B, Dutsch M. Enzyme replacement therapy improves function of C-, A<strong>de</strong>lta-, and Abeta-nerve fibers in <strong>Fabry</strong> neuropathy. Neurology. 2004;62:1066-72. 40. Hilz MJ, Kolodny EH, Brys M, Stemper B, Haendl T, Marthol H. Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with <strong>Fabry</strong> disease. J Neurol 2004: 251; 564-70. 41. Hopkin RJ, Bissler J, Grabowski GA. Comparative evaluation of alphagalactosidase A infusions for treatment of <strong>Fabry</strong> disease. Genet Med. 2003;5:144-53. 42. In<strong>de</strong>rbitzin D, Avital I, Largia<strong>de</strong>r F, Vogt B, Candinas D. Kidney transplantation improves survival and is indicated in <strong>Fabry</strong>’s disease. Transplant Proc. 2005;37:4211-4. 43. Kampmann C, Wiethoff CM, Martin C, Wenzel A, Kampmann R, Whybra C, Miebach E, Beck M. Electrocardiographic signs of hypertrophy in <strong>Fabry</strong> disease-associated hypertrophyc cardiomyopathy. Acta Paediatr 2002;suppl 439:21-7 44. Kanekura T, Fukushige T, Kanda A, Tsuyama S, Murata F, Sakuraba H, Kanzaki T. Immunoelectron-microscopic <strong>de</strong>tection of globotriaosylcerami<strong>de</strong> accumulated in the skin of patients with <strong>Fabry</strong> disease. Br J Dermatol. 2005;153:544-8 45. Kolodny EH, Pastores GM. An<strong>de</strong>rson-<strong>Fabry</strong> disease: Extrarenal, Neurologic Manifestations. J Am Soc Nephrol 2002; 13: 150-153. 46. Lao LM, Kumakiri M, Mima H, Kuwahara H, Ishida H, Ishiguro K, et al. The ultrastructural characteristics of eccrine sweat glands in a <strong>Fabry</strong> disease patient with hypohidrosis. J Dermatol. Sci. 1998; 18: 109-117. 47. Larral<strong>de</strong> M, Boggio P, Amartino H, Chamoles N. <strong>Fabry</strong> disease: a study of 6 hemizygous men and 5 heterozygous women with emphasis on <strong>de</strong>rmatologic 13
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