Objective:

To report the clinical outcomes of two Chinese adult male patients with Fabry disease and proteinuria treated with agalsidase beta, focusing on their renal and systemic responses.

Approach:

Key Findings:

• Agalsidase beta was well-tolerated in both patients.
• Case 1 showed renal recovery attributed to transplantation, while ERT contributed to systemic control.
• Case 2 experienced improvement in proteinuria and reduction in Lyso-Gb3 levels.
• Both patients experienced regression of symptoms, including neuropathic pain and gastrointestinal discomfort.

Interpretation:

Both patients experienced stabilization of renal and cardiac function, with concomitant RAAS inhibition required for proteinuria management. Family cascade screening remains critical for early diagnosis.

Limitations:

• Limited number of cases reported, which may affect the generalizability of findings.
• Long-term efficacy and safety data specific to Chinese patients are scarce.

Conclusion:

Agalsidase beta treatment was associated with positive clinical outcomes in these two cases of Fabry disease, highlighting the need for further studies.

Attribution Notice

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