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Updated: Aug 1, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Renal Amyloidosis (AL Kappa Type) With an Uncommon Presentation: A Case Report
Stephanie A Botero1, Michelle Bass2, Carlos S Botero Suarez3
1Department of Medicine, Universidad Del Rosario, Bogotá, COL.
Abstract:
Amyloidosis is a disease associated with deposits of amyloid fibrils that aggregate in various tissues leading to progressive organ failure and often multi-systemic involvement. It may be classified as localized or systemic, acquired or hereditary. Renal presentation is variable but can include nephrotic syndrome, acute renal failure, tubular dysfunction, or just varying degrees of proteinuria. Although most cases of renal amyloidosis are due to acquired causes, in rare instances, the cause can be gene mutations leading to hereditary amyloidosis. We present the case of a 77-year-old Caucasian man diagnosed with renal biopsy-proven AL (kappa) type amyloidosis with isolated renal involvement who had a significant family history of renal biopsy-proven amyloidosis.
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