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

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...

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Bibliographic Details
Published in:Molecular genetics and metabolism reports 2022-06, Vol.31, p.100874, Article 100874
Main Authors: Yamada, Natsuo, Sakuma, Hirofumi, Yanai, Mitsuru, Suzuki, Ayana, Maruyama, Keisuke, Matsuki, Motoki, Nakagawa, Naoki
Format: Article
Language:English
Subjects:
Case Report
Fabry disease
Renal pathology
Urinary mulberry cells
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Summary: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.
ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2022.100874