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

伴有 Glu34Lys 突变和淀粉样蛋白内脂质沉积的肾脏 ApoA-1 淀粉样变性

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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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