FIBRINOGEN A a-CHAIN AMYLOIDOSIS: CLINICAL FEATURES AND OUTCOME AFTER HEPATORENAL OR SOLITARY KINDEY TRANSPLANTATION

摘要

Fibrinogen amyloidosis due to mutations in the fibrinogen A ochain gene (Afib) is the most frequently diagnosed form of hereditary amyloid disease in the U.K. We review its clinical features, course of the disease and outcome after either solitary kidney transplant or hepatorenal transplantation.We have identified the fibrinogen A alpha-chain Glu526Val variant in 38 patients who had presented with renai disease in the 3~(rd)8~(th) decade (median age 57 years). The disease has variable penetrance, remarkable tropism for the kidney, and rapid progression from initial presentation with features of pfoteinuria, hypertension and mild renal impairment, to end stage renal failure and dialysis dependance within just 1-5 years. Serum amyloid P component (SAP) scintigraphy showed renal amyloid in all, and splenic deposits in most cases. Renal histology comprising near replacement of the glomeruli by amyloid without any interstitial or vascular involvement is virtually pathognomic. (Picture 1)