Renal ApoA-1 amyloidosis with Glu34Lys mutation and intra-amyloid lipid accumulation

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Abstract

Apolipoprotein A-1 (ApoA-1) amyloidosis occurs as a nonhereditary condition in atherosclerotic plaques, but it can also manifest as a hereditary disorder caused by mutations of the APOA1 gene. Hereditary ApoA-1 amyloidosis presents with diverse organ involvement based on the position of the mutation. We describe a case of ApoA-1 amyloidosis with a Glu34Lys mutation; testicular, conjunctival, and renal involvement; and the notable finding of lipid deposition within the amyloid deposits.

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Andeen, N. K., Lam, D. Y., De Boer, I. H., & Nicosia, R. F. (2014). Renal ApoA-1 amyloidosis with Glu34Lys mutation and intra-amyloid lipid accumulation. Journal of the American Society of Nephrology, 25(12), 2703–2705. https://doi.org/10.1681/ASN.2013060651

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