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Background <p>Fabry disease is a hereditary disorder that leads to the accumulation of glycolipids, such as globotriaosylceramide, because of the absence or decreased activity of the enzyme alpha-galactosidase A, causing various organ dysfunctions. Urinary mulberry bodies (MBs) are specific markers of Fabry disease and can be identified in urinary sediments through microscopic visual evaluation. However, MBs are present in small quantities in urine, and some are difficult to distinguish morphologically from other urinary components, necessitating a highly accurate and objective automated detection method. Here, we examined the detection of MBs using molecular imaging flow cytometry (MI-FCM).</p> Methods <p>Urine samples from patients with and without Fabry disease were analyzed by MI-FCM for MB detection. Microscopy was used as a control method to identify MBs.</p> Results <p>MI-FCM detected MBs in 33 of 36 Fabry disease patients (sensitivity: 91.7%) and did not detect MBs in any of the nine non-Fabry patients (specificity: 100%). In comparison, visual inspection under an optical microscope detected MBs in 23 of 36 Fabry disease patients (sensitivity: 63.9%), confirming that MI-FCM provided more accurate detection. MBs were detected by MI-FCM in 29 of 30 patients with negative urinary protein.</p> Conclusion <p>MI-FCM frequently detected MBs in Fabry disease patients, even before the onset of renal dysfunction. Screening for MBs may be useful for the early detection of Fabry disease.</p>

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Detection of mulberry bodies using molecular imaging flow cytometry

  • 期刊论文

  • 发表日期：

    2025年11月20日

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  • Kazuya Tsuboi,
  • Akinori Masago,
  • Chiharu Asai,
  • Kazuhiro Yamada

摘要

Background

Fabry disease is a hereditary disorder that leads to the accumulation of glycolipids, such as globotriaosylceramide, because of the absence or decreased activity of the enzyme alpha-galactosidase A, causing various organ dysfunctions. Urinary mulberry bodies (MBs) are specific markers of Fabry disease and can be identified in urinary sediments through microscopic visual evaluation. However, MBs are present in small quantities in urine, and some are difficult to distinguish morphologically from other urinary components, necessitating a highly accurate and objective automated detection method. Here, we examined the detection of MBs using molecular imaging flow cytometry (MI-FCM).

Methods

Urine samples from patients with and without Fabry disease were analyzed by MI-FCM for MB detection. Microscopy was used as a control method to identify MBs.

Results

MI-FCM detected MBs in 33 of 36 Fabry disease patients (sensitivity: 91.7%) and did not detect MBs in any of the nine non-Fabry patients (specificity: 100%). In comparison, visual inspection under an optical microscope detected MBs in 23 of 36 Fabry disease patients (sensitivity: 63.9%), confirming that MI-FCM provided more accurate detection. MBs were detected by MI-FCM in 29 of 30 patients with negative urinary protein.

Conclusion

MI-FCM frequently detected MBs in Fabry disease patients, even before the onset of renal dysfunction. Screening for MBs may be useful for the early detection of Fabry disease.