ArticleCEN case reports2017
Urinary mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry disease.
Article in CEN case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.Clinical science (London, England : 1979) · 2025Article
- Article
- Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.Molecular genetics and metabolism reports · 2023Article
- Article
- Mulberry bodies in the urine sediment of a patient with chronic kidney disease.Advances in laboratory medicine · 2020Article
- Clinical course and pathological findings of two late-onset Fabry hemizygous patients including mulberry cell counts after enzyme replacement therapy.CEN case reports · 2020Article
- Urinary Mulberry Cells as a Biomarker of the Efficacy of Enzyme Replacement Therapy for Fabry Disease.Internal medicine (Tokyo, Japan) · 2020Article
- Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.BMC nephrology · 2019Review
- Fabry Disease with Pacemaker Implantation as the Initial Event.Internal medicine (Tokyo, Japan) · 2019Article
- Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy.Case reports in nephrology and dialysisArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is an X-linked lysosomal storage disorder caused by a lack of α-galactosidase A activity, which leads to the accumulation of globotriaosylceramide in various organs. A complete lack of α-galactosidase A activity in a hemizygous male is the classical phenotype, and some hemizygous males show primarily cardiac and/or renal symptoms that appear in adulthood; this is called the variant type or the late-onset type. The kidney and heart are the major target organs, with damage to these organs related to mortality. Thus, in Fabry patients, early detection and early treatment are critical to longevity. Here, we present a 55-year-old Japanese male patient who was diagnosed with late-onset Fabry nephropathy with cardiomyopathy but with no abnormal urinary findings except for urinary mulberry cells and mulberry bodies. In spite of the absence of abnormal urinary findings, the light microscopic and electron microscopic pathological findings showed extensive deposition of globotriaosylceramide to podocytes. In this paper, we propose that the presence of mulberry cells and mulberry bodies can be used for the earlier detection of Fabry nephropathy, especially the late-onset type.
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