European journal of clinical investigation · 2011
Interdisciplinary approach towards female patients with Fabry disease.
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Weidemann Frank, Niemann Markus, Sommer Claudia, Beer Meinrad, Breunig Frank, Wanner Christoph
Аннотация
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs.
DESIGN: Being X-chromosomal-linked, most studies in the past have focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and thus need to be treated, respectively.
CONCLUSIONS: This review wants to give a systematical overview of the typical organ involvement in female patients with FD. Moreover, therapy recommendations especially for female patients are discussed.
DESIGN: Being X-chromosomal-linked, most studies in the past have focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and thus need to be treated, respectively.
CONCLUSIONS: This review wants to give a systematical overview of the typical organ involvement in female patients with FD. Moreover, therapy recommendations especially for female patients are discussed.