To report a rare case of gelsolin amyloidosis presenting as nephrotic syndrome, emphasizing the need for genetic insights and clinicopathological features associated with the condition.
Key Findings:
The patient presented with nephrotic syndrome and gastrointestinal symptoms but no neuropathy or family history of renal disease, highlighting the atypical presentation.
Initial renal biopsy showed ambiguous pathology with IgA deposition and fibrils, while the second biopsy confirmed hereditary gelsolin amyloidosis.
Mass spectrometry and immunohistochemistry confirmed strong gelsolin deposition in the glomeruli, indicating the disease's impact on renal function.
Interpretation:
The findings suggest that nephrotic syndrome can be a rare presentation of gelsolin amyloidosis, highlighting the need for genetic testing in similar cases to guide clinical management.
Limitations:
The patient's family history could not be fully assessed due to the death of both parents, limiting the understanding of hereditary patterns.
Follow-up examinations did not reveal neurological or cutaneous involvement, which may limit the understanding of the full spectrum of the disease.
Conclusion:
This case underscores the importance of considering hereditary gelsolin amyloidosis in patients with nephrotic syndrome and the critical role of genetic insights in diagnosis and treatment planning.
