Renal ApoA-1 Amyloidosis with Glu34Lys Mutation and Intra-amyloid Lipid Accumulation
Renal ApoA-1 Amyloidosis with Glu34Lys Mutation and Intra-amyloid Lipid Accumulation
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DOI：
10.1681/asn.2013060651
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发表时间：
2014-12-01
影响因子：
13.6
通讯作者：
Nicosia, Roberto F.
中科院分区：
文献类型：
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作者：
Andeen, Nicole K.;Lann, Daniel Y.;Nicosia, Roberto F.
载脂蛋白a -1 （ApoA-1）淀粉样变在动脉粥样硬化斑块中作为一种非遗传性疾病发生，但它也可以表现为APOA1基因突变引起的遗传性疾病。遗传性ApoA-1淀粉样变性表现为基于突变位置的多种器官受累。我们描述了一例ApoA-1淀粉样变性与Glu34Lys突变；睾丸、结膜和肾脏受累；淀粉样蛋白沉积物中脂质沉积的显著发现。
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.