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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Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Karger Publishers 2021-11-01
Edice:	Case Reports in Nephrology and Dialysis
Témata:	enzyme replacement therapy fabry disease mulberry bodies chaperone therapy
On-line přístup:	https://www.karger.com/Article/FullText/520157
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