Zusammenfassung
Der Morbus Fabry ist eine seltene genetische Speichererkrankung, die zu einer progressiven Akkumulation von Globotriaosylceramiden in den Lysosomen verschiedenster Körperzellen führt. Da die Erkrankung X-chromosomal vererbt wird, richtete sich in der Vergangenheit das Hauptaugenmerk auf betroffene Männer. Man weiß heutzutage jedoch, dass Frauen ebenfalls eine ganz typische Organbeteiligung aufweisen und dementsprechend auch behandelt werden müssen. Im Rahmen dieser Übersichtsarbeit sollen die frauenspezifischen Organmanifestationen beim Morbus Fabry systematisch aufgearbeitet werden. Ferner wird versucht, für Frauen mit Morbus Fabry eine Therapierichtlinie zu diskutieren.
Abstract
Fabry’s disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal- linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically review the typical organ involvement in female Fabry patients. Moreover, therapy recommendations especially for female patients are discussed.
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Weidemann, F., Niemann, M., Sommer, C. et al. Frauen mit Morbus Fabry – eine interdisziplinäre diagnostische und therapeutische Herausforderung. Med Klin 105, 627–634 (2010). https://doi.org/10.1007/s00063-010-1102-y
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DOI: https://doi.org/10.1007/s00063-010-1102-y