Индекс стабилизации Фабри (FASTEX): инновационный инструмент для оценки клинической стабилизации при болезни Фабри

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Renzo Mignani

Infermi Hospita

Автор, ответственный за переписку.
Email: renzo.mignani@auslromagna.it
Nephrology and Dialysis Department Италия

Federico Pieruzzi

Department of Health Sciences, University of Milano-Bicocca and Nephrology Unit, San Gerardo Hospital

Email: renzo.mignani@auslromagna.it
Department of Health Sciences Италия

Francesco Berri

Statistic department Ibis Informatica

Email: renzo.mignani@auslromagna.it
Италия

Alessandro Burlina

St Bassano Hospital

Email: renzo.mignani@auslromagna.it
Neurological Unit, Department of Internal Medicine Италия

Benito Chinea

Statistic department Ibis Informatica

Email: renzo.mignani@auslromagna.it
Италия

Maurizio Gallieni

Nephrology and Dialysis Unit, San Carlo Borromeo Hospital, Department of Biomedical and Clinical Sciences “Luigi Sacco”, University of Milano

Email: renzo.mignani@auslromagna.it
Италия

Maurizio Pieroni

San Donato Hospital

Email: renzo.mignani@auslromagna.it
Cardiovascular Department Италия

Alessandro Salviati

University of Verona

Email: renzo.mignani@auslromagna.it
Department of Neurological and Movement Sciences Италия

Marco Spada

University of Torino

Email: renzo.mignani@auslromagna.it
Department of Pediatrics Италия

Список литературы

  1. Desnick R.J., Ioannou Y.A., Eng C.M. α-Galactosidase a deficiency Fabry disease. In: The metabolic and molecular bases of inherited disease. Vol. 3. 8th edn. Eds.: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle. New York: McGraw-Hill, 2001. Pp. 3733–3774.
  2. Germain D.P. Fabry disease. Orphanet J Rare Dis 2010;5:30. doi: 10.1186/1750-1172-5-30.
  3. Laney D.A., Peck D.S., Atherton A.M. et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med 2014;5(17):323–30. doi: 10.1038/gim.2014.120.
  4. Mehta A., Clarke J.T., Giugliani R. et al. Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry outcome survey. J Med Genet 2009;46:548–52. doi: 10.1136/jmg.2008.065904.
  5. Waldek S., Patel M.R., Banikazemi M. et al. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 2009;11:790–6. doi: 10.1097/GIM.0b013e3181bb05bb.
  6. Nakao S., Takenaka T., Maeda M. et al. An atypical variant of Fabry’s disease
  7. in men with left ventricular hypertrophy. N Engl J Med 1995;333:288–93. doi: 10.1056/NEJM199508033330504.
  8. Sachdev B., Takenaka T., Teraguchi H. et al. Prevalence of Anderson–Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407–11. PMID: 11914245.
  9. Wilcox W.R., Oliveira J.P., Hopkin R.J.
  10. et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008;93:112–28. doi: 10.1016/j.ymgme.2007.09.013.
  11. Deegan P.B., Baehner A.F., Barba Romero M.A. et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006;43:347–52. doi: 10.1136/jmg.2005.036327.
  12. Lyon M. Gene activation in the X-chromosome of the mouse. Nature 1961;190:372–3.
  13. Eng C.M., German D.P., Banikazemi M. et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539–48. DOI: 10.109701.gim.0000237866.70357.c6.
  14. Schiffmann R., Kopp J.B., Austin H.A. 3rd et al. Enzyme replacement therapy
  15. in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743–9. PMID: 11386930.
  16. Eng C.M., Guffon N., Wilcox W.R. et al. Safety and efficacy of recombinant human α-galactosidase A – replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9–16. PMID: 11439963.
  17. Giannini E.H., Mehta A.B., Hilz M.J.
  18. et al. A validated disease severity scoring system for Fabry disease. Mol Genet Metab 2009;99:289–90. PMID: 19951842.
  19. Whybra C., Kampmann C., Krummenauer F. et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004;65:299–307. doi: 10.1111/j.13990004.2004.00219.x.
  20. Hughes D.A., Ramaswami U., Barba Romero M.Á. et al. Age adjusting severity scores for Anderson–Fabry Disease. Mol Genet Metab 2010;101:219–27. doi: 10.1016/j.ymgme.2010.06.002.
  21. Delbecq A.L., van de Ven A.H., Gustaf- son D.H. Guidelines for conducting nominal group technique meetings. In: Group Techniques for Program Planning:
  22. A Guide to Nominal Group and Delphi Processes. Eds.: A.L. Delbecq, A.H. van de Ven, D.H. Gustafson. Middleton,
  23. WI: Greenbriar Press, 1986.
  24. Likert R.A. A technique for the measurement of attitudes. Arch Psychol 1932;140:5–55.
  25. Rombach S.M., Smid B.E., Linthorst G.E. et al. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis 2014;37:341–52. doi: 10.1007/s10545-014-9677-8.
  26. Mehta A., Beck M., Eyskens F. et al. Fabry disease: a review of current management strategies. QJM 2010;103:641–59. PMID: 20660166.

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© Mignani R., Pieruzzi F., Berri F., Burlina A., Chinea B., Gallieni M., Pieroni M., Salviati A., Spada M., 2017

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