Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease

Renal Amyloidosis Associated With a Novel Sequence Variant of Gelsolin

“…They described a severe early-onset form of the disease in homozygotes and late-onset slowly progressive form in heterozygotes. 18 Although neural involvement by gelsolin amyloidosis has been reported in the United States, to our knowledge, there are no US reports of gelsolin amyloidosis involving the kidney.…”

Leukocyte Cell–Derived Chemotaxin 2–Associated Amyloidosis

“…In the United States and Europe, Ig light chain-derived (AL) amyloidosis is, by far, the most frequent type, whereas in developing countries, AA amyloidosis is more common than AL amyloidosis (2). Kidney involvement is present in most patients with AL amyloidosis (3) and AA amyloidosis (4) and may also occur in several rare hereditary forms of amyloidosis, such as those derived from fibrinogen A, transthyretin (ATTR), gelsolin (particularly in homozygotes), lysozyme, apo AI (AApo AI), AApo AII, and AApo AIV (5)(6)(7)(8). The overall renal biopsy incidence of amyloidosis ranges from 1.3% to 4% (5)(6)(7)9).…”

Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred

“…Thus far only three causative mutations in the GSN gene have been reported, two resulting from change of aspartate at position 214 to either asparagine or tyrosine (p.D214N/Y)[1-6] and one from replacing glycine with arginine at codon 194 (p.G194R)[7] (our nomenclature includes the 27 residues signal peptide omitted in the FAF literature). The distinct clinical features of FAF include cranial neuropathy, corneal lattice dystrophy, distal sensorimotor neuropathy and skin changes[1-3].…”

“…The distinct clinical features of FAF include cranial neuropathy, corneal lattice dystrophy, distal sensorimotor neuropathy and skin changes[1-3]. Proteinuria is typically observed in the latter stages of the disease, albeit rare cases presenting with nephrotic syndrome and end stage renal failure have been reported 4,5,6 .…”