阿尔波特综合征的病理诊断。

IF 2.9 3区医学 Q1 UROLOGY & NEPHROLOGY

Kidney Research and Clinical Practice Pub Date : 2024-08-23 DOI:10.23876/j.krcp.24.063

Kyoung Bun Lee, Minsun Jung, Beom Jin Lim

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引用次数: 0

摘要

阿尔波特综合征（AS）是一种遗传性肾炎，其特征是由于 COL4A3、COL4A4 和 COL4A5 基因的致病变异导致肾小球基底膜结构异常。传统的病理评估显示的是非特异性的光镜变化，诊断线索可通过电子显微镜获得。IV 型胶原染色可根据 AS 的遗传性阐明不同的模式，有助于亚型分类。然而，这种方法也存在局限性，尤其是在常染色体显性遗传的病例中。基因检测，尤其是下一代测序，因其能够识别 COL4A3、COL4A4 和 COL4A5 中的各种突变而日益受到重视。

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Pathological diagnosis of Alport syndrome.

Alport syndrome (AS) is a hereditary nephritis characterized by structural abnormalities in the glomerular basement membrane resulting from pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Conventional pathological evaluations reveal nonspecific light microscopic changes and diagnostic clues can be obtained through electron microscopy. Type IV collagen staining elucidates distinct patterns based on AS inheritance, aiding in subtype classification. However, limitations arise, particularly in autosomal dominant cases. Genetic testing, particularly next-generation sequencing, gains prominence due to its ability to identify diverse mutations within COL4A3, COL4A4, and COL4A5.

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来源期刊

Kidney Research and Clinical Practice UROLOGY & NEPHROLOGY-

CiteScore

4.60

自引率

10.00%

发文量

审稿时长

10 weeks

期刊介绍： Kidney Research and Clinical Practice (formerly The Korean Journal of Nephrology; ISSN 1975-9460, launched in 1982), the official journal of the Korean Society of Nephrology, is an international, peer-reviewed journal published in English. Its ISO abbreviation is Kidney Res Clin Pract. To provide an efficient venue for dissemination of knowledge and discussion of topics related to basic renal science and clinical practice, the journal offers open access (free submission and free access) and considers articles on all aspects of clinical nephrology and hypertension as well as related molecular genetics, anatomy, pathology, physiology, pharmacology, and immunology. In particular, the journal focuses on translational renal research that helps bridging laboratory discovery with the diagnosis and treatment of human kidney disease. Topics covered include basic science with possible clinical applicability and papers on the pathophysiological basis of disease processes of the kidney. Original researches from areas of intervention nephrology or dialysis access are also welcomed. Major article types considered for publication include original research and reviews on current topics of interest. Accepted manuscripts are granted free online open-access immediately after publication, which permits its users to read, download, copy, distribute, print, search, or link to the full texts of its articles to facilitate access to a broad readership. Circulation number of print copies is 1,600.