Gelsolin amyloidosis presenting with nephrotic syndrome: a case report and molecular insights - Takeaways - MDSpire

Gelsolin amyloidosis presenting with nephrotic syndrome: a case report and molecular insights

  • By

  • Silin Xiang

  • Peng Bi

  • Dazhou Chen

  • Wen Tang

  • Yuan Li

  • Yali Zhou

  • Dedong Kang

  • Chuqi Pan

  • Feng Wan

  • Jin Yu

  • Xuanli Tang

  • May 18, 2026

  • 0 min

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  • 1

    Familial Amyloidosis of Finnish type is a rare hereditary condition caused by gelsolin gene mutations, presenting with diverse symptoms.

  • 2

    A 58-year-old man with nephrotic syndrome was diagnosed with gelsolin amyloidosis due to a specific gene mutation.

  • 3

    Initial renal biopsy showed ambiguous findings, including segmental IgA deposition and fibrils, but lacked definitive diagnosis.

  • 4

    A second biopsy confirmed hereditary gelsolin amyloidosis through mass spectrometry and immunohistochemistry.

  • 5

    Despite treatment adjustments, the patient's renal function remained stable, with gastrointestinal amyloid deposits identified.

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