揭示肾脏病理学的潜力:探索一种罕见的淀粉样蛋白亚型--最年轻患者的载脂蛋白CII淀粉样变性:病例报告和文献综述。

IF 1.1 4区 医学 Q4 MICROSCOPY Ultrastructural Pathology Pub Date : 2024-07-03 Epub Date: 2024-05-20 DOI:10.1080/01913123.2024.2353397
Yiqin Zuo, Fiona Hanly, Duo Li, Efren Chavez, Omar Aljuboori, Gabriel Contreras, Guillermo A Herrera
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引用次数: 0

摘要

在这份临床病例报告中,我们介绍了一种罕见的亚型淀粉样变性病--载脂蛋白 CII(载脂蛋白 CII),该病是通过肾活检确诊的,随后通过种系 DNA 测序确定了 p.K41T 突变。查阅文献后发现,有五名患者通过肾活检发现了相同的突变,另有一名患者是通过脂肪垫和骨髓活检确诊的。值得注意的是,我们的患者是有记录以来最年轻的病例。我们率先将免疫荧光和免疫金电子显微镜技术应用于载脂蛋白 CII 的评估。我们的报告对该病例进行了详细描述,并对载脂蛋白 CII、载脂蛋白 CII 淀粉样变性累及肾脏或全身的记录病例以及潜在的潜在机制进行了广泛综述。
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Unveiling renal pathology's potential: exploring a rare subtype of amyloid - apolipoprotein CII amyloidosis in the youngest patient: a case report and literature review.

In this clinical case report, we present a rare subtype of amyloidosis, apolipoprotein CII (apo CII), which was diagnosed through a renal biopsy and subsequently confirmed by identifying the p.K41T mutation via germline DNA sequencing. Upon reviewing the literature, five patients exhibiting identical mutation were identified via renal biopsy, while an additional patient was diagnosed through biopsies of the fat pad and bone marrow. Notably, our patient is the youngest recorded case. We pioneered the application of immunofluorescence and immunogold electron microscopy techniques for apo CII evaluation. Our report provides a detailed description of this case, supplemented by an extensive review encompassing apo CII, documented instances of apo CII amyloidosis with renal or systemic involvement, and potential underlying mechanisms.

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来源期刊
Ultrastructural Pathology
Ultrastructural Pathology 医学-病理学
CiteScore
2.00
自引率
10.00%
发文量
40
审稿时长
6-12 weeks
期刊介绍: Ultrastructural Pathology is the official journal of the Society for Ultrastructural Pathology. Published bimonthly, we are the only journal to be devoted entirely to diagnostic ultrastructural pathology. Ultrastructural Pathology is the ideal journal to publish high-quality research on the following topics: Advances in the uses of electron microscopic and immunohistochemical techniques Correlations of ultrastructural data with light microscopy, histochemistry, immunohistochemistry, biochemistry, cell and tissue culturing, and electron probe analysis Important new, investigative, clinical, and diagnostic EM methods.
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