A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and is classified into two types: classical and variant. The classical type exhibits classic manifestations, but the variant type does not and is therefore difficult to identify sometimes. A 73-year-o...

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Autores principales: Onishi, Rina, Kanaoka, Koshiro, Sugiura, Junichi, Tokunaga, Motoko, Takemoto, Yasuhiro, Onoue, Kenji, Yamamoto, Yuta, Horii, Manabu, Saito, Yoshihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306526/
https://www.ncbi.nlm.nih.gov/pubmed/29984754
http://dx.doi.org/10.2169/internalmedicine.1177-18
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author Onishi, Rina
Kanaoka, Koshiro
Sugiura, Junichi
Tokunaga, Motoko
Takemoto, Yasuhiro
Onoue, Kenji
Yamamoto, Yuta
Horii, Manabu
Saito, Yoshihiko
author_facet Onishi, Rina
Kanaoka, Koshiro
Sugiura, Junichi
Tokunaga, Motoko
Takemoto, Yasuhiro
Onoue, Kenji
Yamamoto, Yuta
Horii, Manabu
Saito, Yoshihiko
author_sort Onishi, Rina
collection PubMed
description Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and is classified into two types: classical and variant. The classical type exhibits classic manifestations, but the variant type does not and is therefore difficult to identify sometimes. A 73-year-old woman with a first episode of heart failure was admitted to our hospital. Her left ventricular wall motion was mildly reduced without hypertrophy. Urine sediment revealed mulberry cells, leading to the diagnosis of Fabry disease. In cases without typical clinical findings, urinary mulberry cells may help diagnose Fabry disease.
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spelling pubmed-63065262018-12-27 A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells Onishi, Rina Kanaoka, Koshiro Sugiura, Junichi Tokunaga, Motoko Takemoto, Yasuhiro Onoue, Kenji Yamamoto, Yuta Horii, Manabu Saito, Yoshihiko Intern Med Case Report Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and is classified into two types: classical and variant. The classical type exhibits classic manifestations, but the variant type does not and is therefore difficult to identify sometimes. A 73-year-old woman with a first episode of heart failure was admitted to our hospital. Her left ventricular wall motion was mildly reduced without hypertrophy. Urine sediment revealed mulberry cells, leading to the diagnosis of Fabry disease. In cases without typical clinical findings, urinary mulberry cells may help diagnose Fabry disease. The Japanese Society of Internal Medicine 2018-07-06 2018-12-01 /pmc/articles/PMC6306526/ /pubmed/29984754 http://dx.doi.org/10.2169/internalmedicine.1177-18 Text en Copyright © 2018 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal 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
Onishi, Rina
Kanaoka, Koshiro
Sugiura, Junichi
Tokunaga, Motoko
Takemoto, Yasuhiro
Onoue, Kenji
Yamamoto, Yuta
Horii, Manabu
Saito, Yoshihiko
A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells
title A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells
title_full A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells
title_fullStr A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells
title_full_unstemmed A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells
title_short A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells
title_sort cardiac variant of fabry disease diagnosed with chance urinary mulberry cells
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306526/
https://www.ncbi.nlm.nih.gov/pubmed/29984754
http://dx.doi.org/10.2169/internalmedicine.1177-18
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