Gelsolin amyloidosis associated with the p.D214N gelsolin gene mutation in a Chinese family

Amyloid gelsolin (AGel) amyloidosis is an autosomal dominant hereditary disease associated with mutation in the gelsolin (GSN) gene, AGel amyloidosis predominantly involves the cornea, peripheral and cranial nerves, it can also involve skin, heart, and kidney.Renal involvement in AGel amyloidosis is rare and has been reported in a few studies [1][2][3][4][5][6][7][8].Here we report a family with gelsolin amyloidosis due to c.640G>A (p.D214N) mutation in the GSN gene.This study was approved by the Ethics Committee of Peking University First Hospital (No. 2022-448).Informed consent was obtained from all the subjects.A 45-year-old Chinese male presented with proteinuria for 8 months.His physical examinations were unremarkable.Urinalysis revealed moderate proteinuria of 2.33 g/24 hr.His serum albumin was 37.1 g/L and serum creatinine was 0.83 mg/dL.Serum immunoglobulins and serum-free light chains were normal.Serum and urine immunofixation electrophoresis were negative for monoclonal immunoglobulins.Bone marrow biopsy showed no evidence of a plasma cell disorder.A kidney biopsy was performed to investigate the cause of proteinuria.Renal biopsy demonstrated massive amyloid deposits in glomeruli and focal amyloid deposits in tubulointerstitium,