Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy

Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy

Fabry disease (FD) is an X-linked disorder of the sphingolipid metabolism, caused by deficiency or decreased activity of α-galactosidase A. We report a rare case of Fabry nephropathy (FN) in a 21-year-old Japanese female patient presenting with only urinary mulberry bodies; she was treated with phar...

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Autores principales: Tsugumi Fukunaga, Shingo Nakayama, Takuo Hirose, Kishin Muramatsu, Akari Endo, Yuka Miyake, Go Anan, Ikuko Oba-Yabana, Atsuhiro Kanno, Hannah Nakamura, Junichi Tani, Kimitoshi Nakamura, Kazuhiro Sumitomo, Wako Yumura, Katsutoshi Furukawa, Takefumi Mori
Formato: article
Lenguaje:EN
Publicado: Karger Publishers 2021
Materias:
enzyme replacement therapy
fabry disease
mulberry bodies
chaperone therapy
Diseases of the genitourinary system. Urology
RC870-923
Acceso en línea:https://doaj.org/article/62d22471c8a14e33b34959a8bf2337fb
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https://doaj.org/article/62d22471c8a14e33b34959a8bf2337fb

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