Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria

Natsuo Yamada; Hirofumi Sakuma; Mitsuru Yanai; Ayana Suzuki; Keisuke Maruyama; Motoki Matsuki; Naoki Nakagawa

doi:10.1016/j.ymgmr.2022.100874

Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria

Mol Genet Metab Rep. 2022 Apr 22:31:100874. doi: 10.1016/j.ymgmr.2022.100874. eCollection 2022 Jun.

Authors

Natsuo Yamada¹, Hirofumi Sakuma¹, Mitsuru Yanai², Ayana Suzuki¹, Keisuke Maruyama¹, Motoki Matsuki¹, Naoki Nakagawa¹

Affiliations

¹ Division of Cardiology, Nephrology, Pulmonology and Neurology, Department of Internal Medicine, Asahikawa Medical University, Asahikawa, Japan.
² Department of Pathology, Sapporo Tokushukai Hospital, Sapporo, Japan.

Abstract

We describe the cases of 47- and 45-year-old sisters who were diagnosed with Fabry disease by genomic analysis. Although the only abnormal finding was the presence of mulberry cells in their urinary sediment, the renal pathological scores, which were evaluated by light and electron microscopy, were unexpectedly very high due to severe accumulation of globotriaosylceramide in the glomerular podocytes and tubular epithelial cells. Nephrologists and laboratory technicians should recognize the importance of screening for mulberry cells during urinalysis as this is a simple, inexpensive, and non-invasive method for early diagnosis, leading to early treatment of Fabry disease.

Keywords: Fabry disease; Renal pathology; Urinary mulberry cells.

Publication types

Case Reports