Aoyama Yumi, Ushio Yusuke, Yokoyama Takashi, Taneda Sekiko, Makabe Shiho, Nishida Miki, Manabe Shun, Sato Masayo, Kataoka Hiroshi, Tsuchiya Ken, Nitta Kosaku, Mochizuki Toshio
Department of Nephrology, Tokyo Women's Medical University, Japan.
Department of Clinical Laboratory Medicine, Tokyo Women's Medical University Hospital, Japan.
Intern Med. 2020;59(7):971-976. doi: 10.2169/internalmedicine.3813-19. Epub 2020 Apr 1.
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 α-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.
桑葚状细胞常出现在法布里病（FD）患者的尿沉渣中。我们在此报告两名接受酶替代疗法（ERT）的FD患者。一名41岁男性因缺乏α-半乳糖苷酶A活性而被诊断。随后给予ERT治疗。一名40岁女性根据尿中的桑葚状细胞和基因检测被诊断，并开始ERT治疗。男性患者的肾功能恶化，而女性患者在接受ERT治疗后桑葚状细胞消失。尿中桑葚状细胞的检测有助于诊断，也可作为治疗反应的生物标志物。
