Diagnosis and follow-up of patients with Hunter syndrome in Spain
González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid))
Guillén-Navarro, Encarnación (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia))
Del Toro, Mireia (Hospital Universitari Vall d'Hebron)
Dalmau, Jaime (Hospital Universitari i Politècnic La Fe (València))
González-Meneses, Antonio (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Couce, Maria Luz (Instituto de Investigación Sanitaria de Santiago (IDIS))
Universitat Autònoma de Barcelona

Data:	2018
Resum:	Hunter syndrome or mucopolysaccharidosis type II (MPSII) is a progressive multisystem X-linked lysosomal storage disease caused by mutations in the IDS gene that shows a wide spectrum of clinical symptoms and severity. Idursulfase, a specific enzyme replacement therapy (ERT) for MPSII, has been available since 2007. ERT, along with symptomatic management of patients, is fundamental for improving patient prognosis and quality of life. The aims of this study were to investigate whether Spanish pediatricians who are experts in managing the disease agreed with current international guidelines regarding MPSII patient diagnosis and follow-up; and to reach a consensus regarding which items are essential for the diagnosis, follow-up, and treatment of these patients in Spain. An advisory panel of 5 experts from the Hunter Spanish Working Group reviewed key studies, developed a questionnaire based on a modified Delphi method, sent the questionnaire to selected experts, and reviewed the responses. The final questionnaire had 83 items in the following categories: diagnosis, ERT considerations after diagnosis, Periodic assessments, and ERT considerations during follow-up. A total of 85 experts were invited to participate; 28 (35%) responded and showed a strong consensus for most items. The advisory panel decided not to perform a second Delphi round. There was strong agreement (.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Delphi ; Diagnosis ; Hunter syndrome ; Idursulfase ; Management ; Mucopolysaccharidosis type II
Publicat a:	Medicine, Vol. 97 (july 2018) , ISSN 1536-5964

DOI: 10.1097/MD.0000000000011246
PMID: 30024503

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