Renal gelsolin amyloidosis as a rare cause of proteinuria: a case report and literature review.

ABSTRACT:

Background

Hereditary gelsolin amyloidosis (AGel amyloidosis) is a rare autosomal dominant systemic amyloidosis caused by mutations in the Gelsolin (GSN) gene encoding gelsolin. The condition is characterized by a triad of cranial nerve involvement, corneal lattice amyloidosis, and skin laxity, with a small proportion of cases involving the kidneys and heart. We report the first case of renal AGel amyloidosis associated with a c.487G > A mutation in the GSN gene, presenting as isolated proteinuria.

Case presentation

A 55-year-old woman presented with proteinuria. She had a history of hypertension and diabetes but no family history of kidney disease. Physical examination revealed no abnormalities in the heart, eyes, nerves, or skin. Urinalysis showed moderate proteinuria (197

SUBMITTER: Wang M 

PROVIDER: S-EPMC12699837 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature