A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells

Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A. This disease is classified into two types, namely a classical and variant type. We herein present the case of a 36-year-old man who showed a renal variant of Fabry disease and was diagnosed at an early stage b...

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Autores principales: Shimohata, Homare, Ogawa, Yujiro, Maruyama, Hiroshi, Hirayama, Kouichi, Kobayashi, Masaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216146/
https://www.ncbi.nlm.nih.gov/pubmed/27904112
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author Shimohata, Homare
Ogawa, Yujiro
Maruyama, Hiroshi
Hirayama, Kouichi
Kobayashi, Masaki
author_facet Shimohata, Homare
Ogawa, Yujiro
Maruyama, Hiroshi
Hirayama, Kouichi
Kobayashi, Masaki
author_sort Shimohata, Homare
collection PubMed
description Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A. This disease is classified into two types, namely a classical and variant type. We herein present the case of a 36-year-old man who showed a renal variant of Fabry disease and was diagnosed at an early stage by the presence of mulberry cells. He had no history of general symptoms except for proteinuria. The presence of mulberry cells caused us to suspect Fabry disease and he was thereafter diagnosed to have a renal variant of Fabry disease based on the findings of a renal biopsy, a mutation analysis and a low level of α-galactosidase A activity.
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spelling pubmed-52161462017-01-09 A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells Shimohata, Homare Ogawa, Yujiro Maruyama, Hiroshi Hirayama, Kouichi Kobayashi, Masaki Intern Med Case Report Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A. This disease is classified into two types, namely a classical and variant type. We herein present the case of a 36-year-old man who showed a renal variant of Fabry disease and was diagnosed at an early stage by the presence of mulberry cells. He had no history of general symptoms except for proteinuria. The presence of mulberry cells caused us to suspect Fabry disease and he was thereafter diagnosed to have a renal variant of Fabry disease based on the findings of a renal biopsy, a mutation analysis and a low level of α-galactosidase A activity. The Japanese Society of Internal Medicine 2016-12-01 /pmc/articles/PMC5216146/ /pubmed/27904112 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Shimohata, Homare
Ogawa, Yujiro
Maruyama, Hiroshi
Hirayama, Kouichi
Kobayashi, Masaki
A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells
title A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells
title_full A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells
title_fullStr A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells
title_full_unstemmed A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells
title_short A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells
title_sort renal variant of fabry disease diagnosed by the presence of urinary mulberry cells
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216146/
https://www.ncbi.nlm.nih.gov/pubmed/27904112
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