#AI reads Urine# Urinary Myeloid Bodies as a Biomarker for Early Diagnosis and Monitoring of Enzyme Replacement Therapy in Fabry Disease
Published 06 June, 2025
The key points of the study on urinary myeloid bodies as a biomarker for Fabry disease are as follows:
- **Research Background**
Fabry disease is a rare genetic disorder caused by a deficiency of the enzyme α-galactosidase A, leading to lipid accumulation in various organs, particularly the kidneys. Early diagnosis and non-invasive biomarkers for monitoring treatment efficacy are urgently needed due to the risk of progressive kidney damage.
- **Study Methods**
- **Participants**: 25 patients with Fabry disease and 27 control subjects (including healthy individuals and patients with other kidney diseases).
- **Analysis**: 24-hour urine samples were examined for urinary myeloid bodies using electron microscopy. Seven Fabry patients were evaluated before and after 1 year of enzyme replacement therapy (ERT).
- **Key Findings**
- **Specificity**: Urinary myeloid bodies were detected in 84% of Fabry disease patients but in none of the control subjects, indicating high specificity for Fabry disease.
- **Early Detection**: Myeloid bodies were present in some patients without proteinuria or in the early stages of chronic kidney disease (CKD), suggesting they can indicate early kidney injury before traditional symptoms appear.
- **Treatment Monitoring**: After 1 year of ERT, both the number and area ratio of urinary myeloid bodies significantly decreased in treated patients, demonstrating their potential to monitor treatment efficacy.
- **Conclusion**
Urinary myeloid bodies serve as a specific biomarker for Fabry disease, enabling early diagnosis and assessment of response to enzyme replacement therapy. This provides a non-invasive approach to improve management of the disease.
Kidney Dis (Basel). 2025 Apr 14;11(1):332-341. doi: 10.1159/000545604.
Youhe Gao
Statement: During the preparation of this work the author(s) used Doubao / AI reading for summarizing the content. After using this tool/service, the author(s) reviewed and edited the content as needed and take(s) full responsibility for the content of the published article.
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