Resumen
Introducción: la enfermedad de Pompe es un trastorno de origen genético causado por la deficiencia de la enzima alfa-glucosidasa ácida, que se caracteriza por el acumulo anormal de glucógeno en los músculos y otros tejidos, generando una debilidad muscular progresiva, la cual debe ser diagnosticada y tratada de forma oportuna, ya que de esto dependerá el pronóstico, la sobrevida y la funcionalidad de los pacientes con esta condición.
Contenidos: el abordaje multidisciplinario incluye tanto una adecuada valoración y soporte nutricional como el inicio del tratamiento modificador de enfermedad a través de la terapia de reemplazo enzimático, que a su vez dependerá de la forma de presentación, la variante genética, el perfil inicial del paciente, las condiciones especiales que puedan existir y las metas propias para cada paciente. Para garantizar un manejo adecuado, se deben realizar estudios de seguimiento con parámetros objetivos, evaluar posibles eventos secundarios e instaurar su manejo en caso de presentarlos.
Conclusiones: el pronóstico de esta enfermedad dependerá del inicio oportuno del tratamiento, la implementación de pautas nutricionales adecuadas y el establecimiento del seguimiento de los parámetros clínicos y paraclínicos para cada uno de los pacientes.
Citas
Llerena JC Jr, Horovitz DM, Marie SKN, Porta G, Giugliani R, Rojas MVM, et al. The Brazilian consensus on the management of Pompe disease. 2009;155(4 Suppl):S47-56. http://dx.doi.org/10.1016/j.jpeds.2009.07.006
Llerena Junior JC, Nascimento OJ, Oliveira ASB, Dourado Junior MET, Marrone CD, Siqueira HH, et al. Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease. Arq Neuropsiquiatr. 2016;74(2):166-76. https://doi.org/10.1590/0004-282X20150194
Hobson-Webb LD, Jones HN, Kishnani PS. Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul Disord. 2013;23(4):319-23. https://doi.org/10.1016/j.nmd.2012.12.003
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, et al. Consensus treatment recommendations for late-onset Pompe disease: AAEM Practice Topic: Late-Onset Pompe Disease. Muscle Nerve. 2012;45(3):319-33. https://doi.org/10.1002/mus.22329
Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J, et al. Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve. 2007;35(1):70-7. https://doi.org/10.1002/mus.20665
Ravaglia S, Pichiecchio A, Rossi M, Filippi PD, Minelli A, Moglia A, et al. Dietary treatment in adult-onset type II glycogenosis. J Inherit Metab Dis. 2006;29(4):590. https://doi.org/10.1007/s10545-006-0144-z
Schoser B, Hill V, Raben N. Therapeutic approaches in glycogen storage disease type II/pompe disease. Neurotherapeutics. 2008;5(4):569-78. https://doi.org/10.1016/j.nurt.2008.08.009
Terzis G, Dimopoulos F, Papadimas GK, Papadopoulos C, Spengos K, Fatouros I, et al. Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy. Mol Genet Metab. 2011;104(3):279-83. https://doi.org/10.1016/j.ymgme.2011.05.013
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, et al. The emerging phenotype of late-onset Pompe disease: A systematic literature review. Mol Genet Metab. 2017;120(3):163-72. https://doi.org/10.1016/j.ymgme.2016.12.004
Bernstein DL, Bialer MG, Mehta L, Desnick RJ. Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab. 2010;101(2-3):130-3. https://doi.org/10.1016/j.ymgme.2010.06.003
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267-88. https://doi.org/10.1097/01.gim.0000218152.87434.f3
Kishnani PS, Corzo D, Leslie ND, Gruskin D, Van der Ploeg A, Clancy JP, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009;66(3):329-35. https://doi.org/10.1203/PDR.0b013e3181b24e94
Kohler L, Puertollano R, Raben N. Pompe disease: From basic science to therapy. Neurotherapeutics. 2018;15(4):928-42. https://doi.org/10.1007/s13311-018-0655-y
Do HV, Khanna R, Gotschall R. Challenges in treating Pompe disease: an industry perspective. Ann Transl Med. 2019;7(13):291. https://doi.org/10.21037/atm.2019.04.15
Chien YH, Tsai WH, Chang CL, Chiu PC, Chou YY, Tsai FJ, et al. Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences. Mol Genet Metab Rep. 2020;23(100591):100591. https://doi.org/10.1016/j.ymgmr.2020.100591
Fatehi F, Ashrafi MR, Babaee M, Ansari B, Beiraghi Toosi M, Boostani R, et al. Recommendations for infantile-onset and late-onset Pompe disease: An Iranian consensus. Front Neurol. 2021;12:739931. https://doi.org/10.3389/fneur.2021.739931
Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009;11(3):210-9. https://doi.org/10.1097/GIM.0b013e31819d0996
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, et al. Infantile-onset Pompe disease: Diagnosis and management. Arch Argent Pediatr. 2019;117(4):271-8. https://doi.org/10.5546/aap.2019.eng.271
van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010;362(15):1396-406. https://doi.org/10.1056/NEJMoa0909859
Papadimas GK, Anagnostopoulos C, Xirou S, Michelakakis H, Terzis G, Mavridou I, et al. Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience. Neuromuscul Disord. 2021;31(2):91-100. https://doi.org/10.1016/j.nmd.2020.12.001
Sarah B, Giovanna B, Emanuela K, Nadi N, Josè V, Alberto P. Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis. J Neurol. 2022;269(2):733-41. https://doi.org/10.1007/s00415-021-10526-5
Gutschmidt K, Musumeci O, Díaz-Manera J, Chien Y-H, Knop KC, Wenninger S, et al. STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. J Neurol. 2021;268(7):2482-92. https://doi.org/10.1007/s00415-021-10409-9
Desai AK, Walters CK, Cope HL, Kazi ZB, DeArmey SM, Kishnani PS. Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation. Mol Genet Metab. 2018;123(2):92-6. https://doi.org/10.1016/j.ymgme.2017.12.435
Díaz-Manera J, Walter G, Straub V. Skeletal muscle magnetic resonance imaging in Pompe disease. Muscle Nerve. 2021;63(5):640-50. https://doi.org/10.1002/mus.27099
Scheidegger O, Leupold D, Sauter R, Findling O, Rösler KM, Hundsberger T. 36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry. J Neurol. 2018;265(12):2783-8. https://doi.org/10.1007/s00415-018-9065-7
van Kooten HA, Harlaar L, van der Beek NAME, van Doorn PA, van der Ploeg AT, Brusse E, et al. Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria. Neuromuscul Disord. 2020;30(1):59-66. https://doi.org/10.1016/j.nmd.2019.11.007
Al-Hassnan ZN, Khalifa OA, Bubshait DK, Tulbah S, Alkorashy M, Alzaidan H, et al. The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients. Mol Genet Metab Rep. 2018;15:50-4. https://doi.org/10.1016/j.ymgmr.2018.02.001
McIntosh PT, Hobson-Webb LD, Kazi ZB, Prater SN, Banugaria SG, Austin S, et al. Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Mol Genet Metab. 2018;123(2):85-91. https://doi.org/10.1016/j.ymgme.2017.10.005
Desai AK, Kazi ZB, Bali DS, Kishnani PS. Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy. Mol Genet Metab Rep. 2019;20(100475):100475. https://doi.org/10.1016/j.ymgmr.2019.100475
Schänzer A, Kaiser A-K, Mühlfeld C, Kulessa M, Paulus W, von Pein H, et al. Quantification of muscle pathology in infantile Pompe disease. Neuromuscul Disord. 2017;27(2):141-52. https://doi.org/10.1016/j.nmd.2016.10.010
Stenger EO, Kazi Z, Lisi E, Gambello MJ, Kishnani P. Immune tolerance strategies in siblings with infantile Pompe disease - Advantages for a preemptive approach to high-sustained antibody titers. Mol Genet Metab Rep. 2015;4:30-4. https://doi.org/10.1016/j.ymgmr.2015.05.004
Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, et al. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT. PLoS One. 2013;8(6):e67052. https://doi.org/10.1371/journal.pone.0067052
Kronn DF, Day-Salvatore D, Hwu WL, Jones SA, Nakamura K, Okuyama T, et al. Management of confirmed newborn-screened patients with Pompe disease across the disease spectrum. Pediatrics. 2017;140(Suppl 1):S24-45. https://doi.org/10.1542/peds.2016-0280E
Chen M, Zhang L, Quan S. Enzyme replacement therapy for infantile-onset Pompe disease. Cochrane Libr. 2017;2017(12). https://doi.org/10.1002/14651858.CD011539.pub2
Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC-H, Waterson J, et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149(1):89-97. https://doi.org/10.1016/j.jpeds.2006.02.035
Schor NF. Recombinant human acid ?-glucosidase: Major clinical benefits in infantile-onset Pompe disease. Year B Neurol Neurosurg. 2008;2008:159-60. https://doi.org/10.1016/S0513-5117(08)79087-2
Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, et al. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy. Orphanet J Rare Dis. 2018;13(1). https://doi.org/10.1186/s13023-018-0771-0
Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, et al. Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. Genet Med. 2018;20(10):1284-94. https://doi.org/10.1038/gim.2018.2
Goker-Alpan O, Kasturi VG, Sohi MK, Limgala RP, Austin SL, Jennelle T, et al. Pregnancy outcomes in late onset Pompe Disease. Life (Basel). 2020;10(9):194. https://doi.org/10.3390/life10090194
Gragnaniello V, Deodato F, Gasperini S, Donati MA, Canessa C, Fecarotta S, et al. Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel. Ital J Pediatr. 2022;48(1):41. https://doi.org/10.1186/s13052-022-01219-4
Desai AK, Kazi ZB, Bali DS, Kishnani PS. Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy. Mol Genet Metab Rep. 2019;20:100475. https://doi.org/10.1016/j.ymgmr.2019.100475
Kishnani PS, Attarian S, Borges JL, Bouhour F, Chien YH, Choi YC, et al. Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients. Mol Genet Metab. 2021;132(2):S57. https://doi.org/10.1016/j.ymgme.2020.12.127
Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, et al. Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 97 weeks a phase 3 randomized clinical trial. JAMA Neurol. 2023;80(6):558-67. https://doi.org/10.1001/jamaneurol.2023.0552
Meena NK, Raben N. Pompe disease: New developments in an old lysosomal storage disorder. Biomolecules. 2020;10(9):1339. https://doi.org/10.3390/biom10091339
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-SinDerivadas 4.0.