Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

Medicine
Luis González-Gutiérrez-SolanaMaría L Couce

Abstract

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 ...Continue Reading

References

Aug 5, 1995·BMJ : British Medical Journal·J Jones, D Hunter
Jan 1, 1995·Journal of Pediatric Orthopedics. Part B·F Norman-TaylorW J Sharrard
Jul 1, 1997·The Journal of Bone and Joint Surgery. British Volume·F S HaddadM C Pitt
Aug 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joseph MuenzerAlan Kimura
Dec 23, 2006·Molecular Genetics and Metabolism·Joseph MuenzerAlan Kimura
Feb 5, 2008·Pediatrics·Rick MartinJoseph Muenzer
Jul 12, 2008·Journal of Inherited Metabolic Disease·S Al SawafB Hoffmann
Nov 11, 2009·Pediatrics·Joseph MuenzerE Wraith
Jan 26, 2010·Cornea·Ulrike KottlerSusanne Pitz
Dec 15, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joseph MuenzerAlan Kimura
Jan 15, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joseph MuenzerJames E Wraith
Apr 6, 2011·Journal of Inherited Metabolic Disease·Renzo ManaraMaurizio Scarpa
May 14, 2011·American Journal of Medical Genetics. Part a·Jeong-Yi KwonDong-Kyu Jin
Nov 1, 2011·European Journal of Pediatrics·Joseph MuenzerPaul Harmatz
Nov 9, 2011·Orphanet Journal of Rare Diseases·Maurizio ScarpaUNKNOWN Hunter Syndrome Europena Expert Council
Mar 3, 2012·European Journal of Pediatrics·Barbara K Burton, Roberto Giugliani
May 23, 2012·Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation·Ingela WiklundWen-Hung Chen
Jan 12, 2013·The Journal of Pediatrics·William I WootenMarianne S Muhlebach
Jun 27, 2013·Orphanet Journal of Rare Diseases·Encarna Guillén-NavarroOlga Alonso-Luengo
Jul 11, 2013·Orphanet Journal of Rare Diseases·Mireia Raluy-CalladoIngela Wiklund
Sep 26, 2013·Medicina clínica·Encarna Guillén-NavarroUNKNOWN grupo de trabajo Hunter España
Nov 10, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Roberto GiuglianiArian Pano
Feb 12, 2014·JIMD Reports·Christina LampeLaurie D Smith
Jul 30, 2014·Genetics and Molecular Biology·Roberto GiuglianiHernán Amartino
Nov 15, 2014·Journal of Genetic Counseling·Mary NeedhamSeymour Packman
Feb 28, 2015·Pediatric Neurosurgery·Zbigniew ŻuberAnna Tylki-Szymańska
Nov 7, 2016·Medicina clínica·Jordi Pérez-LópezUNKNOWN Sociedad Española de Medicina Interna (SEMI); Sociedad Española de Neurología Pediátrica (SENEP)
Dec 7, 2017·American Journal of Medical Genetics. Part a·Can FiciciogluRossella Parini

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Citations

Aug 4, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kim L McBrideUNKNOWN ACMG Therapeutics Committee

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Methods Mentioned

BETA
enzyme replacement therapy

Software Mentioned

MPSII

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