Enfermedad de Pompe de inicio tardío en la consulta de Medicina Física Rehabilitación en Bogotá, Colombia.
Palabras clave:
Enfermedad de Pompe, enfermedad de almacenamiento de glucógeno tipo II, terapia de reemplazo enzimático, alfaglucosidasa acida, deficiencia de maltasa acida.Resumen
La enfermedad de Pompe es una patología neuromuscular autosómica recesiva rara, progresiva y frecuentemente fatal. Se caracteriza por la acumulación de glucógeno en muchos tejidos, la cual es más notoria en el músculo esquelético, el corazón y el músculo liso. Dicha acumulación es generada por la deficiencia de la enzima lisosomal alfa glucosidasa ácida. La presentación clínica de esta entidad varía desde una forma infantil o de inicio temprano caracterizada por cardiomiopatía hipertrófica, hepatomegalia, debilidad muscular, hipotonía y muerte originada por falla cardiorrespiratoria en el primer año de vida, hasta la forma de inicio tardío caracterizada por una miopatía lentamente progresiva involucrando predominantemente músculos esqueléticos, que puede presentarse tan tarde como entre la segunda y sexta décadas de la vida.Se presenta el caso clínico de una mujer de 41 años quien consultó al servicio de medicina física y rehabilitación con historia de pérdida progresiva de fuerza muscular de predominio en miembros inferiores y de carácter proximal de trece años de evolución.
En la presente investigación se realizó la descripción del caso, se describió el comportamiento clínico, el paraclínico y la evolución postratamiento inicial; así mismo se realizó una revisión bibliográfica de la literatura científica disponible a nivel mundial a cerca de esta entidad.
Biografía del autor/a
Julieth Maritza Angulo Buitrago, Universidad El Bosque
Julieth Maritza Angulo Buitrago Fisiatra, Universidad El Bosque. Bogotá
Juan Manuel Guevara Zarate, Universidad El Bosque.
Médico FisiatraUniversidad El BosqueCoordinador Programa Medicina Física y Rehabilitación Universidad El Bosque.
Referencias bibliográficas
1. Lara W. Katzin, M. A. Pompe Disease: A Review of the Current Diagnosis and Treatment Recommendations in the Era of Enzyme Replacement Therapy. Journal of Clinical Neuromuscular Disease. 2008:421-431.
2. Castellanos J. A. Enfermedad de Pompe: Guía de diagnóstico y manejo. Asociación Colombiana de Neumología Pediátrica. 2008: 1-28.
3. Juan C. Llerena, J. M. The Brazlian Consensus on the Management of Pompe Disease. The Journal of Pediatrics. 2009: 47-54.
4. Barry J. Byrne a, P. S. Pompe disease: Design, methodology, and early ?ndings from the Pompe Registry. Molecular Genetics and Metabolism. 2011: 1-11.
5. Chien YH, Lee NC, Huang PH, Lee WT, Thurberg BL, Hwu WL. Early pathologic changes and responses to treatment in patients with later-onset Pompe disease. Pediatr Neurol. 2012;46:168-171.
6. Desnuelle C. Salviati L. Challenges in diagnosis and treatment of late-onset Pompe disease. Current Opin Neurology 2011;24:443-448.
7. M. L. Hagemans, L. P. Winkel, P. A. Van Doorn, W. J. Hop, M. C. Loonen, A. J. Reuser, A.T. Van der Ploeg. Clinical
manifestation and natural course of lateonset Pompe’s disease in 54 Dutch patients. Brain 2005;128:671-677.
8. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. Journal Pediatrics 2006;148:671-676.
9. Martins, MK. Utility of Rare Disease Registries in Latin America. JIMD Reports. January 2011: 111-115.
10. Priya S. Kishnani, M. Pompe Disease Diagnosis and Management Guideline. Genetics in Medicine. May 2006: 1-22.
11. Mozaffar T, Pestronk A. Myopathy with anti-Jo-1 antibodies: pathology in perimysium and neighbouring muscle fibre. J Neurol Neurosurg Psychiatry 2000;68:472-478.
12. Goldin E, Zheng W, Motabar O, et al. High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase. PLoS One 2012;7:e29861.
13. Ross LF. Newborn screening for lysosomal storage diseases: an ethical and policy analysis. J Inherit Metab Dis 2011.
14. Manwaring V, Prunty H, Bainbridge K, et al. Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases. J Inhe rMetab Dis 2012; 35: 311-316.
15. Ans T. van der Ploeg. A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe’s Disease. The new England Journal of Medicine. 2010: 1396-1406.
16. Regnery C, Kornblum C, Hanisch F, et al. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inher Metab. Dic 2012.
17. Wang J, Lozier J, Johnson G, et al. 29. Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment. Nat Biotechnol 2008;26:901-908.
18. Angelini C, S. C. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. Journal Neurology 2011.
19. Dubrovsky A, Corderi J, Lin M, Kishnani P, Jones H. Expanding the phenotype of lateonset Pompe disease: Tongue weakness: A new clinical observation. Muscle Nerve 2011;44:897-901.
20. Tippin BL, Troitskaya L, Kan SH, Todd AK, Le SQ, Dickson PI. Biochemical characterization of fluorescent- abeled recombinant human alpha-L-iduronidase in vitro.
Biotechnol Appl Biochem 2011;58:391-396.
21. Angelini C, S. C. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. Journal Neurology 2011.
22. Deniz Güngör, J. M. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet Journal of Rare Diseases 2011: 6-34.
23. Chen, D. D. Glycogen storage disease types I and II: Treatment updates. 2007;30:159-164.
24. Van CapelleCI, van der Beek NA, de Vries JM, et al. The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients. J Inherit Metab Dis 2012;35:317-323.
25. Van den Hout HM, Hop W, van Dig- 3. gelen OP, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332-340.
2. Castellanos J. A. Enfermedad de Pompe: Guía de diagnóstico y manejo. Asociación Colombiana de Neumología Pediátrica. 2008: 1-28.
3. Juan C. Llerena, J. M. The Brazlian Consensus on the Management of Pompe Disease. The Journal of Pediatrics. 2009: 47-54.
4. Barry J. Byrne a, P. S. Pompe disease: Design, methodology, and early ?ndings from the Pompe Registry. Molecular Genetics and Metabolism. 2011: 1-11.
5. Chien YH, Lee NC, Huang PH, Lee WT, Thurberg BL, Hwu WL. Early pathologic changes and responses to treatment in patients with later-onset Pompe disease. Pediatr Neurol. 2012;46:168-171.
6. Desnuelle C. Salviati L. Challenges in diagnosis and treatment of late-onset Pompe disease. Current Opin Neurology 2011;24:443-448.
7. M. L. Hagemans, L. P. Winkel, P. A. Van Doorn, W. J. Hop, M. C. Loonen, A. J. Reuser, A.T. Van der Ploeg. Clinical
manifestation and natural course of lateonset Pompe’s disease in 54 Dutch patients. Brain 2005;128:671-677.
8. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. Journal Pediatrics 2006;148:671-676.
9. Martins, MK. Utility of Rare Disease Registries in Latin America. JIMD Reports. January 2011: 111-115.
10. Priya S. Kishnani, M. Pompe Disease Diagnosis and Management Guideline. Genetics in Medicine. May 2006: 1-22.
11. Mozaffar T, Pestronk A. Myopathy with anti-Jo-1 antibodies: pathology in perimysium and neighbouring muscle fibre. J Neurol Neurosurg Psychiatry 2000;68:472-478.
12. Goldin E, Zheng W, Motabar O, et al. High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase. PLoS One 2012;7:e29861.
13. Ross LF. Newborn screening for lysosomal storage diseases: an ethical and policy analysis. J Inherit Metab Dis 2011.
14. Manwaring V, Prunty H, Bainbridge K, et al. Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases. J Inhe rMetab Dis 2012; 35: 311-316.
15. Ans T. van der Ploeg. A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe’s Disease. The new England Journal of Medicine. 2010: 1396-1406.
16. Regnery C, Kornblum C, Hanisch F, et al. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inher Metab. Dic 2012.
17. Wang J, Lozier J, Johnson G, et al. 29. Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment. Nat Biotechnol 2008;26:901-908.
18. Angelini C, S. C. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. Journal Neurology 2011.
19. Dubrovsky A, Corderi J, Lin M, Kishnani P, Jones H. Expanding the phenotype of lateonset Pompe disease: Tongue weakness: A new clinical observation. Muscle Nerve 2011;44:897-901.
20. Tippin BL, Troitskaya L, Kan SH, Todd AK, Le SQ, Dickson PI. Biochemical characterization of fluorescent- abeled recombinant human alpha-L-iduronidase in vitro.
Biotechnol Appl Biochem 2011;58:391-396.
21. Angelini C, S. C. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. Journal Neurology 2011.
22. Deniz Güngör, J. M. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet Journal of Rare Diseases 2011: 6-34.
23. Chen, D. D. Glycogen storage disease types I and II: Treatment updates. 2007;30:159-164.
24. Van CapelleCI, van der Beek NA, de Vries JM, et al. The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients. J Inherit Metab Dis 2012;35:317-323.
25. Van den Hout HM, Hop W, van Dig- 3. gelen OP, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332-340.
Cómo citar
1.
Angulo Buitrago JM, Guevara Zarate JM. Enfermedad de Pompe de inicio tardío en la consulta de Medicina Física Rehabilitación en Bogotá, Colombia. Rev. Colomb. Med. Fis. Rehabil. [Internet]. 19 de septiembre de 2013 [citado 18 de abril de 2024];23(1):82-93. Disponible en: https://revistacmfr.org/index.php/rcmfr/article/view/66
Descargas
Los datos de descargas todavía no están disponibles.
