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

Nicole K. Andeen; Daniel Y. Lam; Ian H. De Boer; Roberto F. Nicosia

doi:10.1681/ASN.2013060651

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

Nicole K. Andeen, Daniel Y. Lam, Ian H. De Boer, Roberto F. Nicosia

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

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.

Original language	English (US)
Pages (from-to)	2703-2705
Number of pages	3
Journal	Journal of the American Society of Nephrology
Volume	25
Issue number	12
DOIs	https://doi.org/10.1681/ASN.2013060651
State	Published - Dec 1 2014
Externally published	Yes

ASJC Scopus subject areas

General Medicine

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title = "Renal ApoA-1 amyloidosis with Glu34Lys mutation and intra-amyloid lipid accumulation",

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.",

author = "Andeen, {Nicole K.} and Lam, {Daniel Y.} and {De Boer}, {Ian H.} and Nicosia, {Roberto F.}",

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AU - Andeen, Nicole K.

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AU - De Boer, Ian H.

AU - Nicosia, Roberto F.

PY - 2014/12/1

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N2 - 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.

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

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