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Updated: Sep 10, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Wild-Type Transthyretin Amyloidosis in the Kidneys
Tracy Joshi1, Tatiana Prokaeva2, Deepa M Gopal1
1Amyloidosis Center, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.
None:
Wild-type transthyretin (ATTRwt) amyloidosis typically presents with restrictive cardiomyopathy. Kidney involvement is exceedingly rare. We report to our knowledge the first antemortem diagnosis of ATTRwt amyloidosis with kidney vasculature deposition in a patient presenting with progressive kidney failure. Notably, technetium-99m pyrophosphate scintigraphy showed no myocardial uptake. This case expands the known spectrum of organ involvement in ATTRwt amyloidosis and underscores the need to consider extracardiac manifestations in its diagnosis.
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