Unexpectedly High Renal Pathological Scores of Two Female Siblings with Fabry Disease Presenting with Urinary Mulberry Cells Without Microalbuminuria

Overview

Journal Mol Genet Metab Rep

Specialty Endocrinology

Date 2022 Jul 5

PMID 35782605

Authors

Natsuo Yamada

Hirofumi Sakuma

Mitsuru Yanai

Ayana Suzuki

Keisuke Maruyama

Motoki Matsuki

Naoki Nakagawa

Affiliations

Soon will be listed here.

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.

Citing Articles

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A case series of Fabry diseases with CKD in Japan.

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