Journal
INTERNAL MEDICINE
Volume 59, Issue 7, Pages 971-976Publisher
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.3813-19
Keywords
enzyme replacement therapy; Fabry disease; Lyso-Gb3; Mulberry body; Mulberry cell; urinary sediment
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Mulberry cells are often present in the urinary sediments of patients with Fabry disease (FD). We herein report two patients with FD undergoing enzyme replacement therapy (ERT). A 41-year-old man was diagnosed based on lack of alpha-galactosidase A activity. ERT was subsequently administered. A 40-year-old woman was diagnosed based on urinary Mulberry cells and genetic testing, and ERT was initiated. While the renal function of the male patient deteriorated, the Mulberry cells disappeared in the female patient after ERT was administered. The detection of urinary Mulberry cells can contribute to the diagnosis as well as serve as a biomarker for the response to treatment.
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