Concentric Lamellar Spheres in Urine From a Female Carrier of and Patients With Fabry's Disease

Nagao, S; Satoh, Norio; Inaba, Shogo; Iijima, Satoshi

doi:10.1111/j.1346-8138.1985.tb01540.x

Cited by 6 publications

(1 citation statement)

References 12 publications

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“…Most of the cells present in the urine of Fabry patients are renal tubular epithelial cells [44]. Mulberry cells with characteristic "Maltese cross bodies" (oval fat bodies) can be detected in the urinary sediments of Fabry patients under a polarized microscope [45,46]. Example of a Maltese cross in the urine sediment of FD patients is shown in Figure 1.…”

Section: Urine Microscopymentioning

confidence: 99%

Biomarkers of Fabry Nephropathy: Review and Future Perspective

Levstek

Vujkovac

Podkrajšek

2020

Genes

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Progressive nephropathy is one of the main features of Fabry disease, which largely contributes to the overall morbidity and mortality burden of the disease. Due to the lack of specific biomarkers, the heterogeneity of the disease, and unspecific symptoms, diagnosis is often delayed. Clinical presentation in individual patients varies widely, even in patients from the same family carrying the same pathogenic GLA variant. Therefore, it is reasonable to anticipate that additional genomic, transcriptomic, proteomic, and metabolomics factors influence the manifestation and progression of the disease. The aim of this article is to provide an overview of nephropathy in Fabry patients and the biomarkers currently used in the diagnosis and follow-up. Current biomarkers are associated with late signs of kidney damage. Therefore, there is a need to identify biomarkers associated with early stages of kidney damage that would enable early diagnosis, which is crucial for effective treatment and prevention of severe irreversible complications. Recent advances in sequencing and -omics technologies have led to several studies investigating new biomarkers. We will provide an overview of the novel biomarkers, critically evaluate their clinical utility, and propose future perspectives, which we believe might be in their integration.

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Section: Urine Microscopymentioning

confidence: 99%

Biomarkers of Fabry Nephropathy: Review and Future Perspective

Levstek

Vujkovac

Podkrajšek

2020

Genes

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Urinary mulberry bodies as a potential biomarker for early diagnosis and efficacy assessment of enzyme replacement therapy in Fabry nephropathy

Yonishi

Namba‐Hamano

Hamano

et al. 2020

Nephrology Dialysis Transplantation

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Background The inability of enzyme replacement therapy (ERT) to prevent progression of Fabry nephropathy (FN) in the presence of >1 g/day proteinuria underscores the necessity of identifying effective biomarkers for early diagnosis of FN preceding proteinuria. Here we attempted to identify biomarkers for early detection of FN. Methods Fifty-one Fabry disease (FD) patients were enrolled. Urinary mulberry bodies (uMBs) were immunostained for globotriaosylceramide (Gb3) and renal cell markers to determine their origin. The association between semiquantitative uMB excretion and the histological severity of podocyte vacuolation was investigated in seven patients using the vacuolated podocyte:glomerular average area ratio. The association between the semiquantitative estimate of uMB excretion and duration of ERT was analyzed. A longitudinal study was conducted to assess the effect of ERT on uMB excretion. Results Thirty-two patients (63%) had uMBs, while only 31% showed proteinuria. The uMBs were positive for Gb3, lysosomal-associated membrane protein 1 and podocalyxin, suggesting they were derived from lysosomes with Gb3 accumulation in podocytes. We observed more severe podocyte vacuolation with increased uMB excretion (P = 0.03 for trend); however, the same was not observed with increased proteinuria. The percentage of patients with substantial uMB excretion increased with shorter ERT duration (P = 0.018). Eighteen-month-long ERT reduced uMB excretion (P = 0.03) without affecting proteinuria. Conclusions uMB excretion, implying ongoing podocyte injury, preceded proteinuria in most patients. Semiquantitative uMB estimates can serve as novel biomarkers for early FN diagnosis and for monitoring the efficacy of FD-specific therapies.

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Targeted urine microscopy in Anderson-Fabry Disease: a cheap, sensitive and specific diagnostic technique

Selvarajah¹,

Nicholls²,

Hewitson³

et al. 2011

Nephrology Dialysis Transplantation

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We investigate the use of wetting films to significantly improve the imaging performance of lensfree pixel super-resolution on-chip microscopy, achieving < 1 µm spatial resolution over a large imaging area of ~24 mm 2. Formation of an ultra-thin wetting film over the specimen effectively creates a micro-lens effect over each object, which significantly improves the signal-to-noise-ratio and therefore the resolution of our lensfree images. We validate the performance of this approach through lensfree on-chip imaging of various objects having fine morphological features (with dimensions of e.g., ≤0.5 µm) such as Escherichia coli (E. coli), human sperm, Giardia lamblia trophozoites, polystyrene micro beads as well as red blood cells. These results are especially important for the development of highly sensitive field-portable microscopic analysis tools for resource limited settings., "Two-dimensional standing wave total internal reflection fluorescence microscopy: superresolution imaging of single molecular and biological specimens," Biophys. J.

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Concentric Lamellar Spheres in Urine From a Female Carrier of and Patients With Fabry's Disease

Cited by 6 publications

References 12 publications

Biomarkers of Fabry Nephropathy: Review and Future Perspective

Biomarkers of Fabry Nephropathy: Review and Future Perspective

Urinary mulberry bodies as a potential biomarker for early diagnosis and efficacy assessment of enzyme replacement therapy in Fabry nephropathy

Targeted urine microscopy in Anderson-Fabry Disease: a cheap, sensitive and specific diagnostic technique

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