Renal Involvement in Transthyretin Amyloidosis: The Double Presentation of Transthyretin Amyloidosis Deposition Disease

We describe 2 WT ATTR patients, 1 patient with c.424G#x3e;A (p.(Val142Ile)) mutation of the TTR gene, and 1 patient with Val30Met mutation of the TTR gene. In all patients, the biopsy showed the presence of amyloid deposits with different distribution (#1 pericapsular, #2 –3 vessels, #4 vessels, interstitium of medulla and cortex, and tubular basement membrane). The use of immunohistochemistry has enabled the identification of TTR, and identify the precursor protein. The possibility of kidney involvement in TTR amyloidosis should be taken into account in patients w ith renal impairment and unexplained cardiomyopathy and/or neuropathy. This is even of greater interest to the elderly for the possible confounding co-existence of plasma cell dyscrasia that could lead the clinician, in the presence of renal amyloid deposits, to misdiagnose AL amyloidosis and undert ake inappropriate treatments.Nephron
Source: Nephron - Category: Urology & Nephrology Source Type: research