著者

Rina Onishi Koshiro Kanaoka Junichi Sugiura Motoko Tokunaga Yasuhiro Takemoto Kenji Onoue Yuta Yamamoto Manabu Horii Yoshihiko Saito

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.1177-18, (Released:2018-07-06)

参考文献数

11

被引用文献数

4 5

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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.