Urinary mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry disease

Shimohata, Homare; Maruyama, Hiroshi; Miyamoto, Yasunori; Takayasu, Mamiko; Hirayama, Kouichi; Kobayashi, Masaki

doi:10.1007/s13730-017-0262-5

Cited by 14 publications

(13 citation statements)

References 16 publications

(17 reference statements)

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“…In this case, we detected mulberry bodies in the urine. Recently, mulberry bodies and cells have become useful noninvasive diagnostic markers in patients with late-onset FD, even in those with normoalbuminuria and/or normal renal function [22]. The source of mulberry bodies is believed to be podocytes and/or distal tubular epithelial cells.…”

Section: Discussionmentioning

confidence: 99%

Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review

et al. 2019

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BackgroundFabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene, followed by deficiency in α-galactosidase A (α-gal) activity. Nephrotic syndrome, as the renal phenotype of FD, is unusual. Here, we report the rare case of a patient with FD with nephrotic syndrome whose proteinuria disappeared by immunotherapy.Case presentationA 67-year-old Japanese man was admitted to our hospital because of emesis, abdominal pain, and facial edema due to nephrotic syndrome. The patient was diagnosed with focal segmental glomerulosclerosis (FSGS) by renal biopsy before being diagnosed with FD, and immunotherapy was initiated. After treatment, the kidney biopsy results showed typical glycosphingolipid accumulation in the podocytes of this patient. The white blood cell α-gal activity was very low, and genetic analysis revealed a GLA gene variant (M296I), which is known as a late-onset genetic mutation of FD. Immunotherapy (steroids and cyclosporine A) dramatically improved the massive proteinuria. Currently, he has been undergoing enzyme replacement therapy, and his proteinuria has further decreased. There is the possibility that other nephrotic syndromes, such as minimal change nephrotic syndrome or FSGS, may co-exist in this patient.ConclusionsWe experienced the rare case of a FD patient whose nephrotic syndrome disappeared by immunotherapy. These findings suggest that immunosuppressive treatment may be considered if nephrotic syndrome develops, even in patients with FD.

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Section: Discussionmentioning

confidence: 99%

Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review

et al. 2019

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“…Mulberry bodies, which are caused by the accumulation of globotriaosylceramide on the epithelial cells of the distal convoluted tubules, are specific to FD [ 10 ]. The diagnostic accuracy may vary depending on the ability and experience of the medical technician, and, to the best of our knowledge, no study has described the relationship between the quantities of mulberry bodies and the progression of renal dysfunction in patients with FD or their utility as biomarkers for treatment.…”

Section: Discussionmentioning

confidence: 99%

Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy

Fukunaga

Nakayama

Hirose

et al. 2021

Case Rep Nephrol Dial

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Fabry disease (FD) is an X-linked disorder of the sphingolipid metabolism, caused by deficiency or decreased activity of α-galactosidase A. We report a rare case of Fabry nephropathy (FN) in a 21-year-old Japanese female patient presenting with only urinary mulberry bodies; she was treated with pharmacological chaperone therapy (PCT) after renal biopsy. The patient underwent a detailed examination because her mother was diagnosed with FD in the Division of Community Medicine of our hospital. She did not have renal dysfunction or proteinuria, and only mulberry bodies were detected in the urine. The activity of α-galactosidase A was low, and genetic analysis revealed the R301Q mutation. A percutaneous renal biopsy was performed, and the findings revealed enlargement and vacuolation of glomerular podocytes by light microscopy, and myelin and zebra bodies were detected in podocytes by electron microscopy. She was diagnosed with FN by renal biopsy and gene analysis. PCT was selected as the treatment to prevent cardiac events and renal dysfunction. The present case suggests that renal biopsy may be necessary even for young women with only mulberry bodies for the diagnosis of FN. It could be useful to evaluate the effect of treatment using the counts of mulberry bodies in the urine. In addition, due to its oral administration, PCT may be suitable for patients who are unable to visit the hospital frequently.

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“…Another remarkable finding of our present analysis is the confirmation of the usefulness of the mulberry cell count for pathological assessments of the efficacy of ERT. Mulberry cells and mulberry bodies have been recognized as a useful tool for detecting various types of Fabry disease at earlier time points [7,9,[14][15][16]. Mulberry cells and mulberry bodies are characteristic features of Fabry nephropathy, and they are distinguishable from oval fat bodies and fat particles based on the inner lamellar appearance of mulberry bodies.…”

Section: Discussionmentioning

confidence: 99%

“…Our second patient was a 55-year-old Japanese male who was diagnosed with late-onset Fabry disease (specifically the cardiac-variant type) based on low α-galactosidase A activity in leucocytes (1.0 mol/h/mg protein) and Gb-3 deposits on the heart and kidney [9]. The patient's main symptom was cardiomyopathy, but he also showed Fabry-specific renal pathological findings in the first renal biopsy: enlarged and vacuolated podocytes under light microscopy and myelinlike bodies in podocytes shown by electron microscopy (Fig.…”

Section: Casementioning

confidence: 99%

Clinical course and pathological findings of two late-onset Fabry hemizygous patients including mulberry cell counts after enzyme replacement therapy

et al. 2020

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Fabry disease is an X-linked inherited lysosomal storage disorder caused by a deficiency of α-galactosidase A activity, resulting in the intracellular accumulation of globotriaosylceramide and related glycosphingolipids. The phenotypes of Fabry disease in both males and females are grouped into two categories: the classical type and the late-onset type. The classical type shows general symptoms including angiokeratoma(s), acroparesthesia, hypohidrosis, corneal opacity, and gastrointestinal symptoms from an early age. The late-onset type shows cardiac or renal (or both) symptoms from a late age. We present herein the clinical course and pathological findings of two late-onset hemizygous Fabry patients after the initiation of enzyme replacement therapy (ERT), along with their mulberry cell counts during treatment. One patient's case was a renal-variant type without general symptoms; he showed stable renal function and mild proteinuria but little histological improvement with no change in the mulberry cell count during ERT. The other patient had a cardiac-variant type with renal pathological abnormality. He achieved a mild improvement of renal pathological findings, and his mulberry cell count gradually decreased during the treatment. These findings indicate that monitoring the mulberry cell count might help assess the efficacy of ERT, as a renal pathology tool.

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Urinary mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry disease

Cited by 14 publications

References 16 publications

Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review

Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review

Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy

Clinical course and pathological findings of two late-onset Fabry hemizygous patients including mulberry cell counts after enzyme replacement therapy

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