Hereditary Renal Amyloidosis Associated With a Novel Apolipoprotein A-II Variant

Abstract

Systemic amyloidosis is characterized by the extracellular deposition of misfolded proteins as insoluble amyloid fibrils in various tissues. The familial forms of amyloidosis (AF) comprise a group of autosomal dominant diseases associated with mutations in a number of genes encoding amyloid precursor proteins. These diseases collectively exhibit various phenotypes, including ages of onset, organ involvements, rates of progression, and prognoses.1,2 Hereditary nonneuropathic, renal amyloidosis was first reported by Ostertag3,4; since that report, mutations in lysozyme,2 fibrinogen A-α chain,5,6 transthyretin,7 gelsolin,8 apolipoprotein (apo) A-I,4,7 A-II,4 A-IV,9,10 C-II,11 and C-III12 have been linked to the disease.