Manifestaciones musculoesqueléticas de la mucopolisacaridosis tipo 1
Resumen
Las mucopolisacaridosis (MPS) comprenden un grupo de trastornos caracterizados por la acumulación lisosomal progresiva de glicosaminoglicanos (GAG). La MPS tipo I es una enfermedad compleja y progresiva que afecta a múltiples órganos, con elevado número de mutaciones. En los pacientes con MPS I el fenotipo varía desde el síndrome de Hurler, la manifestación más grave, el tipo intermedio menos grave de Hurler-Scheie y la enfermedad de Scheie atenuada. Las alteraciones musculo-esqueléticas más frecuentes comprenden contracturas articulares, disostosis multiplex, síndrome del túnel carpiano, afección de la columna, entre otros. pGALS (de las siglas en inglés: pediátrico, marcha, brazos, piernas y columna vertebral) es una herramienta de evaluación útil para detectar anomalías de las articulaciones en los niños, identificando así las sospechas de MPS, para el diagnóstico y tratamiento precoces.Descargas
Citas
(1) Bay L, Amartino H, Barreiro C, Cozzo V, Czornyj L, Drelichman G, et al. Grupo de Trabajo Enfermedades poco frecuentes. Consenso de diagnóstico y tratamiento de la Mucopolisacaridosis tipo I. Arch Argent Pediatr 2008; 106(4):361-68.
(2) Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011;50(5):4-12.
(3) Muenzer J, Wraith JE, Clarke LA. International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009; 123: 19-29.
(4) Cimaz R, Coppa GV , Kone-Paut I, Link B, Pastores GM, Elorduy MR, et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J 2009 Oct 23;7:18. doi: 10.1186/1546-0096-7-18.
(5) Jadhav TM, Kornberg AJ, Peters H, Lee J, Ryan MM. Carpal Tunnel Syndrome in Pediatric Mucopolysaccharidoses. JIC NA 2015;15:101. DOI: http://dx.doi.org/10.17724/jicna.2015.101
(6) Pastores GM, Arn P, Beck M, Clarke JT, Guffon N, Kaplan P, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 2007;91:37-47.
(7) Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management, Arch Dis Child 1995;72:263–7.
(8) Stenson PD, Ball EV, Mort M, Howells K, Philips AD, Thomas NS, et al. Human Gene Mutation Data base: 2003 update. Hum Mutat 2003;21(6):577-581.
(9) Hurler G. Über einen Typ multipler Abartungen, vorwiegend am Skelett system. Z Kinderheilk 1919;24:220.
(10) Scheie H, Hambrick G, Barness L. A newly recognized forme fruste of Hurler’s disease (gargoylism). Am J Ophthalm 1962;53:753–69.
(11) V ijay S, Wraith JE. Clinical presentation and follow up of patients with attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr 2005;94:872–877.
(12) Fisher RC , Horner RL, Wood WE. The hand in mucopolysaccharide disorders. Clin Orthop Relat Res 1974;104:191–199.
(13) Haddad FS, Jones DH, Vellodi A, Kane N, Pitt MC. Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. J Bone Joint Surg Br 1997;79:576-82.
(14) T andon V, Williamson JB, Cowie RA, Wraith JE. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Jt Surg Br 1996;78:938–945.
(15) Manger B, Mengel E, Schaefer RM. Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol 2007;16:335-341.
(16) Van Meir N, De Smet L. Carpal tunnel syndrome in children. Acta Orthop Belg. 2003;69:387-395.
(17) White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33.
(18) Paterson DE, Harper G, Weston HJ, Mattingley J. Maroteaux Lamy syndrome, mild form–MPS vi B. Br J Radiol 1982;55:805–812.
(19) Tønnesen T, Gregersen HN, Guttler F. Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux Lamy phenol type. J Med Genet 1991;28:499–501.
(20) Melikoglu MA, Kocabas H, Sezer I, Cay HF, Cassidy AG, Balci N. Legg–Perthes disease-like joint involvement and diagnosis delay in Scheie syndrome: a case report. Clin Rheumatol 2007;26(11):1937–1939.
(21) Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v19-25.
(22) Clarke L, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Long-termefficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009; 123:229-240.
(23) Dumas HM, Fragala MA, Haley SM, Skrinar AM, Wraith JE, Cox GF. Physical performance testing in mucopolysaccharidosis I: a pilot study. Pediatr Rehabil 2004;7:125–131.
(24) Muñoz-Rojas MV, Bay L, Sanchez L, van Kuijck M, Ospina S, Cabello JF, Martins AM. Clinical manifestations and treatment of mucopoly saccharidosis type I patients in Latin America as compared with the rest of the world. J Inherit Metab Dis 2001;34(5):1029–37.
(25) Cimaz R, Vijay S, Haase C, Coppa GV , Bruni S, Wraith E, Guffon N. Attenuated type I mucopolysaccharidosis in the differential diagnosis o of juvenile idiopathic arthritis: a series of 13 patients with Scheie syn drome. Clin Exp Rheumatol 2006;24:196-202.
(26) C leary MA, Wraith JE. The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr. 1995;84:337-9.
(27) Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. The natural history of MPS I: global perspectives from the MPS I Registry [published online March 27, 2014]. Genet Med. doi:10.1038/gim.2014.25
(28) Bruni S, Lavery C, Broomfield A. The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences. Mol Genet Metab Rep. 2016 Sep;8:67–73.
(29) Foster HE, Kay LJ, Friswell M, Coady D, Myers A. Musculoskeletal screening examination (pGALS) for school-age children based on the adult GALS screen. Arthritis Rheum 2006;55:709–16.
(30) Doherty M, Dacre J, Dieppe P, Snaith M. The ‚GALS‘ locomotor screen. Ann Rheum Dis 1992;51:1165–69.
(31) Chan MO, Sen ES, Hardy E, Hensman P, Wraith E, Jones S, et al. Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS. Pediatric Rheumatology 2014:12:32.
