ABSTRACT
Systemic amyloidosis in early childhood is extremely rare, and is usually of AA type complicating JIA and other chronic inflammatory diseases. This chapter aims to report the molecular basis of amyloidosis that presented with asymptomatic proteinuria in an otherwise healthy Korean girl aged 7 years, who progressed to end-stage renal failure associated with amyloid hepatomegaly within 2 years. A renal biopsy showed enlarged glomeruli virtually replaced by amyloid, but no interstitial or vascular involvement, an appearance identical to that seen in more than 40 Caucasian patients we have evaluated with hereditary fibrinogen A a chain Glu526Val amyloidosis. The amyloid deposits in fixed sections stained specifically with antibodies to fibrinogen, and a frameshift deletion-insertion (indel) mutation is identified in one allele of her fibrinogen A. No mutations were identified in the other genes known to be associated with hereditary renal amyloid.
