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Diagnóstico y tratamiento en la enfermedad de Pompe
Resumen
La enfermedad de Pompe es un trastorno neuromuscular raro, progresivo, de curso rápido, debilitante y frecuentemente letal. Es causada por la deficiencia de la enzima lisosomal alfa-glucosidasa. Se considera uno de los trastornos por almacenamiento de glucógeno más frecuentes, cuyas manifestaciones pueden iniciar en cualquier momento de la vida con sintomatología muy variable. Se presenta una revisión extensa de la literatura acerca de los principales aspectos médicos sobre la enfermedad de Pompe: etiología y fisiopatología, epidemiología, variantes clínicas, diagnóstico patológico y terapia de reemplazo enzimático. Con esta información se generó una guía diagnóstico-terapéutica dirigida a los especialistas y a los médicos de primer nivel de atención médica, con la finalidad de permitirles identificar los casos de las formas clásica y tardía del padecimiento, para proveer un adecuado tratamiento oportuno y multidisciplinario. Asimismo, se emiten recomendaciones para el funcionamiento de las instituciones de salud y se ofrecen rutas diagnósticas de fácil aplicación. Se concluye que la enfermedad de Pompe puede diagnosticarse y tratarse adecuadamente si se siguen los estándares emitidos en el ámbito internacional.
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Schultz ML, Tecedor L, Chang M, Davidson BL. Clarifying lysosomal storage diseases. Trends Neurosci. 2011;34(8):401-10.
Van der Ploeg AT, et al. Pompe's disease lysosomal storage disease 2. Lancet. 2008;372(9646):1342-53.
Van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics. 2003;112(2):332-40.
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. J Pediatr. 2006;148(5):671-6.
Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr. 2000;137(2):283-5.
Pompe JC. Over idiopatische hypertrophie van het hart. Ned Tijdshr Geneeskd. 1932;76:304.
Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68(2):99-109.
Hirschhorn R, Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. En: Scriver CR, Beaudet A, Sly WS, Valle D, editores. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. p. 3389-420.
Reuser AJ, Drost MR. Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles. Acta Paediatr Suppl. 2006;95(451):77-82.
Futerman AH, van Meer G. The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol. 2004;5(7):554-65.
Moreland RJ, Jin X, Zhang XK, Decker RW, Albee KL, Lee KL, et al. Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor. J Biol Chem. 2005;280(8): 6780-91.
Raben N, Takikita S, Pittis MG, Bembi B, Marie SK, Roberts A, et al. Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand. Autophagy. 2007;3(6):546-52.
Fukuda T, Ewan L, Bauer M, Mattaliano RJ, Zaal K, Ralston E, et al. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol. 2006;59(4):700-8.
Shea L, Raben N. Autophagy in skeletal muscle: implications for Pompe disease. Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S42-7.
Drost MR, Schaart G, van Dijk P, van Capelle CI, van der Vusse GJ, Delhaas T, et al. Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease. Muscle Nerve. 2008;37(2):251-5.
Raben N, Roberts A, Plotz PH. Role of autophagy in the pathogenesis of Pompe disease. Acta Myol. 2007;26(1):45-8.
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.
Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH, et al. Frequency of glycogen storage disease type II in the Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999;7(6):713-6.
Becker JA, Vlach J, Raben N, Nagaraju K, Adams EM, Hermans MM, et al. The African origin of the common mutation in African American patients with glycogen-storage disease type II. Am J Hum Genet. 1998;62(4):991-4.
Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN, et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. 1998;79(1):69-72.
Shieh JJ, Lin CY. Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect. Hum Mutat. 1998;11(4):306-12.
Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, et al. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011;103(1):1-11.
Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004;144 Suppl 2:S35-43.
Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol. 2005;252(8):875-84.
Howell RR, Byrne B, Darras BT, Kishnani P, Nicolino M, van der Ploeg A. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet Med. 2006;8(5):289-96.
Fayssoil A. Cardiomyopathy in Pompe's disease. Eur J Intern Med. 2008;19(1):57-9.
Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr. 2000;137(2):283-5.
DeRuisseau LR, Fuller DD, Qiu K, DeRuisseau KC, Donnelly WH Jr, Mah C, et al. Neural deficits contribute to respiratory insufficiency in Pompe disease. Proc Natl Acad Sci U S A. 2009:106(23);9419-24.
Hoeksma M, Boon M, Niezen-Koning KE, van Overbeek-van Gils L, van Spronsen FJ. Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease. Eur J Pediatr. 2007;166(8):871-4.
Cook AL, Kishnani PS, Carboni MP, Kanter RJ, Chen YT, Ansong AK, et al. Ambulatory electrocardiogram analysis in infants treated with recombinant human acid-glucosidase enzyme replacement therapy for Pompe disease. Genet Med. 2006;8(5):313-7.
Hobson-Webb LD, Dearmey S, Kishnani PS. The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings. Clin Neurophysiol. 2011;122(11):2312-7.
Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005;128(Pt 3):671-7.
Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol. 2005;252(8):875-4.
Schüller A, Wenninger S, Strigl-Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160(1):80-8.
American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40(1):149-60.
Dubrovsky A, Corderi J, Lin M, Kishnani PS, Jones HN. Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation. Muscle Nerve. 2011;44(6):897-901.
Hagemans ML, van Schie SP, Janssens AC, van Doorn PA, Reuser AJ, van der Ploeg AT. Fatigue: an important feature of late-onset Pompe disease. J Neurol. 2007;254(7):941-5.
van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, et al. Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis. 2012;35(3):505-11.
Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, et al. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab. 2011;104(4):574-82.
Pellegrini N, Laforet P, Orlikowski D, Pellegrini M, Caillaud C, Eymard B, et al. Respiratory insufficiency and limb muscle weakness in adults with Pompe’s disease. Eur Respir J. 2005;26(6):1024-31.
Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ, Van der Ploeg AT. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology. 2006;66(4):581-3.
van der Beek NA, van Capelle CI, van der Velden-van Etten KI, Hop WC, van den Berg B, Reuser AJ, et al. Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab. 2011;104(1-2):129-36.
Mellies U, Stehling F, Dohna-Schwake C, Ragette R, Teschler H, Voit T. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology. 2005;64(8):1465-7.
Puruckherr M, Pooyan P, Girish MR, Byrd RP Jr, Roy TM. Successful treatment of respiratory insufficiency due to adult acid maltase deficiency with noninvasive positive pressure ventilation. Sleep Med. 2004;5(4):379-81.
Mellies U, Ragette R, Schwake C, Baethmann M, Voit T, Teschler H. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology. 2001;57(7):1290-5.
Soliman OI, van der Beek NA, van Doorn PA, Vletter WB, Nemes A, Van Dalen BM, et al. Cardiac involvement in adults with Pompe disease. J Intern Med. 2008;264(4):333-9.
Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007;17(9-10):698-706.
Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology. 1999;52(4):851-3.
Di Fiore MT, Manfredi R, Marri L, Zucchini A, Azzaroli L, Manfredi G. Elevation of transaminases as an early sign of late-onset glycogenosis type II. Eur J Pediatr. 1993;152(9):784.
Llerena JC Jr, Horovitz DM, Marie SK, Porta G, Giugliani R, Rojas MV, et al. The Brazilian consensus on the management of Pompe disease. J Pediatr. 2009;155 Suppl 4:S47-56.
Van der Ploeg AT. Monitoring of pulmonary function in Pompe disease: a muscle disease with new therapeutic perspectives. Eur Respir J. 2005;26(6): 984-5.
Pompe Disease Diagnostic Working Group, Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008;93(3):275-81.
Jack RM, Gordon C, Scott CR, Kishnani PS, Bali D. The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genet Med. 2006;8(5):307-12.
Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, et al. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Mol Genet Metab. 2007;90(4):449-52.
Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, et al. The use of dried blood spot samples in the diagnosis of lysosomal storage disorders—current status and perspectives. Mol Genet Metab. 2011;104(1-2):144-8.
Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, et al. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve. 2009;40(1):32-6.
Schoser BG, Müller-Höcker J, Horvath R, Gempel K, Pongratz D, Lochmüller H, et al. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol. 2007;33(5):544-59.
Wierzba-Bobrowicz T, Lewandowska E, Lugowska A, Rola R, Stepien T, Ryglewicz D, et al. Adult glycogenosis type II (Pompe’s disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity. Folia Neuropathol. 2007;45(4):179-86.
Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin. 2000;18(1):151-165.
Lewandowska E, Wierzba-Bobrowicz T, Rola R, Modzelewska J, Stepień T, Lugowska A, et al. Pathology of skeletal muscle cells in adult-onset glycogenosis type II (Pompe disease): ultrastructural study. Folia Neuropathol. 2008;46(2):123-33.
Hobson-Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab. 2012;106(4):462-9.
Hagemans ML, Stigter RL, van Capelle CI, van der Beek NA, Winkel LP, van Vliet L, et al. PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease. J Inherit Metab Dis. 2010;33(2):133-9.
Young SP, Zhang H, Corzo D, Thurberg BL, Bali D, Kishnani PS, et al. Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker. Genet Med. 2009;11(7):536-41.
Tinkle BT, Leslie N. Glycogen Storage Disease Type II (Pompe Disease). En: Pagon RA, Bird TD, Dolan CR, Stephens K, editores. Gene Reviews [Internet]. Seattle: University of Washington; 1993-2007 Ago 31. Disponible en http://www.ncbi.nlm.nih.gov/books/NBK1261/
Hicks J, Wartchow E, Mierau G. Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment. Ultrastruct Pathol. 2011;35(5):183-96.
Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005;352(4):362-72.
Martiniuk F, Mehler M, Pellicer A, Tzall S, La Badie G, Hobart C, et al. Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients. Proc Natl Acad Sci USA. 1986;83 (24):9641-4.
Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA. Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. EMBO J. 1988;7(6):1697-704.
Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der P; GAA Database Consortium, et al. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Hum Mutat. 2012;33(8): 1161-5.
Hermans MM, van Leenen D, Kroos MA, Beesley CE, van Der Ploeg AT, Sakuraba H, et al. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hum Mutat. 2004;23(1):47-56.
Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ. The genotype-phenotype correlation in Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160(1):59-68.
Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, et al. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol Genet Metab. 2010;99(4):379-83.
Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45(3):319-33.
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.
Van Capelle CI, Winkel LP, Hagemans ML, Shapira SK, Arts WF, van Doorn PA, et al. Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord. 2008;18(6):447-52.
Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010; 99(1):26-33.
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.
Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, 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.
El-Gharbawy AH, Mackey J, DeArmey S, Westby G, Grinnell SG, Malovrh P, et al. An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions. Mol Genet Metab. 2011;104(1-2):118-22.
Abbott MA, Prater SN, Banugaria SG, Richards SM, Young SP, Rosenberg AS, et al. Atypical immunologic response in a patient with CRIM-negative Pompe disease. Mol Genet Metab. 2011;104(4):583-6.
Lacaná E, Yao LP, Pariser AR, Rosenberg AS. The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160(1):30-9.
Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS. The impact of antibodies in late-onset Pompe disease: a case series and literature review. Mol Genet Metab. 2012;106(3):301-9.
Raben N, Ralston E, Chien YH, Baum R, Schreiner C, Hwu WL, et al. Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy. Mol Genet Metab. 2010;101(4):324-31.
Cardone M, Porto C, Tarallo A, Vicinanza M, Rossi B, Polishchuk E, et al. Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts. Pathogenetics. 2008;1(1):6.doi: 10.1186/1755-8417-1-6.
Koeberl DD, Luo X, Sun B, McVie-Wylie A, Dai J, Li S, et al. Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle. Mol Genet Metab. 2011;103(2):107-12.
Raben N, Jatkar T, Lee A, Lu N, Dwivedi S, Nagaraju K, et al. Glycogen stored in skeletal but not in cardiac muscle in acid glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme. Mol Ther. 2002;6(5):601-8.
Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med. 2011;13(7): 625-31.
Kravitz RM, Mackey J, DeArmey S, Kishnani PS. Pulmonary function findings in patients with infantile Pompe disease. Proc Am Thorac Soc. 2005;2:A186.
Kravitz RM, Mackey J, DeArmey S, Kishnani PS. Polysomnogram findings in patients with infantile Pompe disease. Proc Am Thorac Soc. 2005;2:A459.
Bodamer OA, Halliday D, Leonard JV. The effects of l-alanine supplementation in late-onset glycogen storage disease type II. Neurology. 2000;55(5):710-2.
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.
Van der Beek NA, Verschuure H, Reuser AJ, van der Ploeg AT, van Doorn PA, Poublon RM. Hearing in adults with Pompe disease. J Inherit Metab Dis. 2011;35(2):335-41.
Van Capelle CI, Goedegebure A, Homans NC, Hoeve HL, Reuser AJ, van der Ploeg AT. Hearing loss in Pompe disease revisited: results from a study of 24 children. J Inherit Metab Dis. 2010;33(5):597-602.
Fowler WM Jr. Role of physical activity and exercise training in neuromuscular diseases. Am J Phys Med Rehabil. 2002;81(11):S187-95.
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.
Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, et al. Pompe disease gene therapy. Hum Mol Genet. 2011;20(R1):R61-8.
Van Capelle CI, van der Beek NA, Hagemans ML, Arts WF, Hop WC, Lee P, et al. Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord. 2010;20(12):775-82.
Güngör D, de Vries JM, Hop WC, Reuser AJ, van Doorn PA, van der Ploeg AT, et al. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis. 2011;6:34.
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