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Updated: Feb 10, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[An unusual presentation of Amyloidosis AL]
Anna Zito1, Antonio De Pascalis1, Paolo Ria1
1Unità Operativa Nefrologia e Dialisi, Ospedale Vito Fazzi, Lecce.
Abstract:
We describe the case of a 74-year-old man admitted to our Nephrology Unit with nephrotic syndrome and mild kidney disease. A complete panel of laboratoristic and instrumental tests did not provide useful information for diagnosis. No specific signs or symptoms suggested the presence of AL amyloidosis. As a matter of fact, diagnosis was reached thanks to the hystopathologic examination of renal tissue and bone marrow, since the associated B-cell lymphoproliferative disorder had not revealed itself through serum and urine electrophoresis and immunofixation. This recent case provides the opportunity to review about the disease and to revaluate the renal biopsy as a first line exam in a clinical context where laboratoristic and instrumental tests offer us poor information.
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