Department-related Tasks and Organ-targeted Therapy in Fabry Disease: An Interdisciplinary Challenge

作者:Weidemann Frank*; Sommer Claudia; Duning Thomas; Lanzl Ines; Moehrenschlager Matthias; Naleschinski Dennis; Arning Kathrin; Baron Ralf; Niemann Markus; Breunig Frank; Schaefer Roland; Strotmann Joerg; Wanner Christoph
来源:American Journal of Medicine, 2010, 123(7): 658.e1.
DOI:10.1016/j.amjmed.2009.12.022

摘要

Fabry disease is a rare X-linked storage disorder leading to an accumulation of globotriaosylceramides in all cells carrying lysosomes. As the accumulation occurs in most organs, different medical specialties are involved in the diagnostics and therapy of Fabry disease. With this review of the 3 main specialties ( cardiology, nephrology, and neurology) and, in addition, the adjacent specialties (ophthalmology and dermatology), we aim to discuss the division-related responsibilities and want to suggest an organ-related additional therapy besides enzyme replacement therapy.

  • 出版日期2010-7