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

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.

SUBMITTER: Yamada N

PROVIDER: S-EPMC9248205 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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

Yamada Natsuo N Sakuma Hirofumi H Yanai Mitsuru M Suzuki Ayana A Maruyama Keisuke K Matsuki Motoki M Nakagawa Naoki N

Molecular genetics and metabolism reports 20220422

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 impor ...[more]

PMID: 35782605

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