ABSTRACT

This chapter seeks to report a Spanish family with dominantly inherited amyloidosis presenting in middle age with slowly progressive renal involvement. The novel residue is therefore followed by the same 20-residue C-terminal peptide extension that has previously been reported in 3 other families with hereditary apoAII amyloidosis, although these have been due to different nucleotide substitutions. The frequency and penetrance of amyloidogenic apoAII mutations in the wider population is unknown, and sequencing of the apoAII gene should therefore be considered in patients with slowly progressive renal amyloidosis in whom definitive evidence of AL or other types cannot be obtained. Renal biopsy showed substantial glomerular, interstitial and vascular amyloid deposits, which did not stain with a panel of antibodies to SAA, kappa and lambda light chains, fibrinogen A alpha chain, lysozyme or apoAI.