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

作者：Shimohata Homare^*; Ogawa Yujiro; Maruyama Hiroshi; Hirayama Kouichi; Kobayashi Masaki

来源：Internal Medicine, 2016, 55(23): 3475-3478.

DOI：10.2169/internalmedicine.55.7367

• Fabry disease
• mulberry bodies
• mulberry cells
• renal variant

Fabry disease is a lysosomal storage disorder caused by a deficiency of alpha-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 alpha-galactosidase A activity.

• 出版日期2016