[Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge].
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.
Weidemann
Frank
F
Medizinische Klinik und Poliklinik I, Universitätsklinik Würzburg, Würzburg, Germany. Weidemann_F@medizin.uni-wuerzburg.de
Niemann
Markus
M
Sommer
Claudia
C
Beer
Meinrad
M
Breunig
Frank
F
Wanner
Christoph
C
D000328:Adult; D000483:Alleles; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics / Q000473:pathology; D003131:Combined Modality Therapy; D003299:Cooperative Behavior; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy; D005820:Genetic Testing; D005919:Glomerular Filtration Rate / Q000235:genetics; D006801:Humans; D033183:Interdisciplinary Communication; D007678:Kidney Glomerulus / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D011507:Proteinuria / Q000235:genetics / Q000473:pathology; D020521:Stroke / Q000235:genetics / Q000473:pathology; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics
D000519:alpha-Galactosidase