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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spelling	oai:doaj.org-article:62d22471c8a14e33b34959a8bf2337fb2021-12-02T12:40:23ZFabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy2296-970510.1159/000520157https://doaj.org/article/62d22471c8a14e33b34959a8bf2337fb2021-11-01T00:00:00Zhttps://www.karger.com/Article/FullText/520157https://doaj.org/toc/2296-9705Fabry 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 pharmacological chaperone therapy (PCT) after renal biopsy. The patient underwent a detailed examination because her mother was diagnosed with FD in the Division of Community Medicine of our hospital. She did not have renal dysfunction or proteinuria, and only mulberry bodies were detected in the urine. The activity of α-galactosidase A was low, and genetic analysis revealed the R301Q mutation. A percutaneous renal biopsy was performed, and the findings revealed enlargement and vacuolation of glomerular podocytes by light microscopy, and myelin and zebra bodies were detected in podocytes by electron microscopy. She was diagnosed with FN by renal biopsy and gene analysis. PCT was selected as the treatment to prevent cardiac events and renal dysfunction. The present case suggests that renal biopsy may be necessary even for young women with only mulberry bodies for the diagnosis of FN. It could be useful to evaluate the effect of treatment using the counts of mulberry bodies in the urine. In addition, due to its oral administration, PCT may be suitable for patients who are unable to visit the hospital frequently.Tsugumi FukunagaShingo NakayamaTakuo HiroseKishin MuramatsuAkari EndoYuka MiyakeGo AnanIkuko Oba-YabanaAtsuhiro KannoHannah NakamuraJunichi TaniKimitoshi NakamuraKazuhiro SumitomoWako YumuraKatsutoshi FurukawaTakefumi MoriKarger Publishersarticleenzyme replacement therapyfabry diseasemulberry bodieschaperone therapyDiseases of the genitourinary system. UrologyRC870-923ENCase Reports in Nephrology and Dialysis, Vol 11, Iss 3, Pp 355-361 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	enzyme replacement therapy fabry disease mulberry bodies chaperone therapy Diseases of the genitourinary system. Urology RC870-923
spellingShingle	enzyme replacement therapy fabry disease mulberry bodies chaperone therapy Diseases of the genitourinary system. Urology RC870-923 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 Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy
description	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 pharmacological chaperone therapy (PCT) after renal biopsy. The patient underwent a detailed examination because her mother was diagnosed with FD in the Division of Community Medicine of our hospital. She did not have renal dysfunction or proteinuria, and only mulberry bodies were detected in the urine. The activity of α-galactosidase A was low, and genetic analysis revealed the R301Q mutation. A percutaneous renal biopsy was performed, and the findings revealed enlargement and vacuolation of glomerular podocytes by light microscopy, and myelin and zebra bodies were detected in podocytes by electron microscopy. She was diagnosed with FN by renal biopsy and gene analysis. PCT was selected as the treatment to prevent cardiac events and renal dysfunction. The present case suggests that renal biopsy may be necessary even for young women with only mulberry bodies for the diagnosis of FN. It could be useful to evaluate the effect of treatment using the counts of mulberry bodies in the urine. In addition, due to its oral administration, PCT may be suitable for patients who are unable to visit the hospital frequently.
format	article
author	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
author_facet	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
author_sort	Tsugumi Fukunaga
title	Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy
title_short	Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy
title_full	Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy
title_fullStr	Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy
title_full_unstemmed	Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy
title_sort	fabry nephropathy in a young female patient presenting with only urinary mulberry bodies treated with chaperone therapy
publisher	Karger Publishers
publishDate	2021
url	https://doaj.org/article/62d22471c8a14e33b34959a8bf2337fb
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Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy

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