Manifestaciones musculoesqueléticas de la mucopolisacaridosis tipo 1

  • Zoilo Morel Hospital de Clínicas, Facultad de Ciencias Médicas, Universidad Nacional de Asunción, San Lorenzo
Palabras clave: Mucopolisacaridosis tipo 1, Reumatología, músculo-esqueléticas, osteo-articulares, pGALS

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.

Citas

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Publicado
2017-06-30
Cómo citar
Morel, Z. (2017). Manifestaciones musculoesqueléticas de la mucopolisacaridosis tipo 1. Revista Paraguaya De Reumatología, 3(1), 35-39. Recuperado a partir de http://revista.spr.org.py/index.php/spr/article/view/52
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