Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells
Rina OnishiKoshiro KanaokaJunichi SugiuraMotoko TokunagaYasuhiro TakemotoKenji OnoueYuta YamamotoManabu HoriiYoshihiko Saito
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JOURNALS OPEN ACCESS

2018 Volume 57 Issue 23 Pages 3385-3388

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Abstract

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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© 2018 by The Japanese Society of Internal Medicine
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