伴有Glu34Lys突变和淀粉样蛋白内脂质蓄积的肾载脂蛋白A-1淀粉样变性
Renal ApoA-1 amyloidosis with Glu34Lys mutation and intra-amyloid lipid accumulation.
作者信息
Andeen Nicole K, Lam Daniel Y, de Boer Ian H, Nicosia Roberto F
机构信息
Department of Pathology, University of Washington, Seattle, Washington; and
Hospital and Specialty Medicine Service and.
出版信息
J Am Soc Nephrol. 2014 Dec;25(12):2703-5. doi: 10.1681/ASN.2013060651. Epub 2014 Jun 12.
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.
摘要
载脂蛋白A-1（ApoA-1）淀粉样变性在动脉粥样硬化斑块中以非遗传性疾病形式出现，但也可表现为由APOA1基因突变引起的遗传性疾病。遗传性ApoA-1淀粉样变性根据突变位置表现出不同器官受累情况。我们描述了一例具有Glu34Lys突变、睾丸、结膜和肾脏受累以及淀粉样沉积物内脂质沉积这一显著发现的ApoA-1淀粉样变性病例。
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