New recommendations for the care of patients with mucopolysaccharidosis type I

Arch Argent Pediatr. 2021 Apr;119(2):e121-e128. doi: 10.5546/aap.2021.eng.e121.
[Article in English, Spanish]

Abstract
in English, Spanish

Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, spinal and neurological conditions, as well as current treatments, were reviewed. Emphasis was placed on the need for early diagnosis and treatment, as well as an interdisciplinary follow-up.

Dados los avances sobre mucopolisacaridosis I con posterioridad al consenso publicado en la Argentina por un grupo de expertos en 2008, se revisan recomendaciones respecto a estudios genéticos, seguimiento cardiológico, cuidado de la vía aérea, alertas sobre aspectos auditivos, de la patología espinal y neurológica. Se hace revisión de la terapéutica actual y se enfatiza en la necesidad de un diagnóstico y tratamiento precoces, así como de un seguimiento interdisciplinario.

Keywords: classification; diagnosis; follow-up; mucopolysaccharidosis type I; treatment.

Publication types

  • Review

MeSH terms

  • Argentina
  • Consensus
  • Humans
  • Mucopolysaccharidosis I* / diagnosis
  • Mucopolysaccharidosis I* / genetics
  • Mucopolysaccharidosis I* / therapy