Management of Fabry disease

Orvosi hetilap
Tamás ConstantinGyörgy Fekete

Abstract

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death. The disease in females could be as severe as in males although women may be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline has been summarized by a Hungarian multi-disciplinary working group consisting of physicians who are involved in diagnosis and care of Fabry patients. Previous clinical studies, published articles, and recently established international treatment guidelines were reviewed by the group.

References

Jun 21, 2001·JAMA : the Journal of the American Medical Association·R SchiffmannR O Brady
Jul 7, 2001·The New England Journal of Medicine·C M EngUNKNOWN International Collaborative Fabry Disease Study Group
Apr 16, 2003·Kidney International. Supplement·Frank BreunigChristoph Wanner
Sep 16, 2003·Journal of the Neurological Sciences·Irenio GomesLaura Jardim
Nov 26, 2003·Muscle & Nerve·Raphael SchiffmannRoscoe O Brady
Jan 7, 2004·Journal of Inherited Metabolic Disease·F BaehnerM Beck
Mar 18, 2004·European Journal of Clinical Investigation·A MehtaM Beck
May 6, 2004·The Journal of Pediatrics·Robert J Desnick, Roscoe O Brady
Sep 25, 2004·Muscle & Nerve·David LacomisLaurie Mathie
Feb 3, 2005·Current Opinion in Nephrology and Hypertension·David G Warnock
May 18, 2005·Acta Paediatrica. Supplement·A MehtaUNKNOWN FOS Investigators
Jul 5, 2005·European Journal of Echocardiography : the Journal of the Working Group on Echocardiography of the European Society of Cardiology·J De BackerJ De Sutter
Sep 6, 2005·Zeitschrift für Kardiologie·J StrotmannG Ertl
Oct 6, 2005·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Raphael SchiffmannRoscoe O Brady
Feb 28, 2006·Acta Paediatrica·Uma RamaswamiUNKNOWN FOS European Investigators
Mar 24, 2006·AJR. American Journal of Roentgenology·Olivier LidoveJean-Pierre Laissy
Mar 28, 2006·American Journal of Ophthalmology·Leonardo MastropasquaMarco Ciancaglini
Apr 4, 2006·Advances in Chronic Kidney Disease·David G Warnock, Michael L West
Apr 13, 2006·Kidney International·F BreunigC Wanner
Apr 25, 2006·Journal of the American College of Cardiology·Maurizio PieroniAndrea Frustaci
May 25, 2006·Acta Paediatrica. Supplement·Lionel GinsbergAlessandro P Burlina
Jun 8, 2006·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·James C MoonDudley J Pennell
Jul 4, 2006·Journal of Inherited Metabolic Disease·Gregory BiererZab Mosenifar
Aug 1, 2006·American Journal of Hypertension·Julia KleinertGere Sunder-Plassmann
Aug 22, 2006·European Journal of Clinical Investigation·S HegemannA Keilmann
Sep 5, 2006·Pediatrics·Markus RiesRaphael Schiffmann
Sep 16, 2006·The British Journal of Ophthalmology·Andrea SodiSuzanne Pitz
Sep 19, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Christine M EngWilliam R Wilcox
Dec 14, 2006·The Medical Clinics of North America·Steven H Horowitz

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