类固醇抵抗性肾病综合征的遗传原因:文献回顾

Q4 Medicine Pediatriya - Zhurnal im G.N. Speranskogo Pub Date : 2023-08-10 DOI:10.24110/0031-403x-2023-102-4-100-111

A. Milovanova, P. Ananin, K. Savostyanov, A. Tsygin

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引用次数: 0

摘要

肾病综合征(NS)是一种以严重蛋白尿、低蛋白血症、低白蛋白血症、高脂血症和广泛性水肿为特征的严重肾小球疾病。迄今为止，已经鉴定出60多个基因，它们与足细胞的发育、结构完整性和功能有关。这些基因的致病性核苷酸变异导致30%的类固醇抵抗性肾病综合征的足细胞病变。根据受损的蛋白质，病程的严重程度，外部表现以及治疗方案可能有所不同。因此，分子遗传学研究在近几十年的小儿类固醇耐药综合征诊断中处于领先地位。

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GENETIC CAUSES FOR STEROID RESISTANT NEPHROTIC SYNDROME: A BIBLIOGRAPHICAL REVIEW

Nephrotic syndrome (NS) is a severe glomerulopathy characterized by severe proteinuria, hypoproteinemia, hypoalbuminemia, hyperlipidemia and widespread edema. There’ve been over sixty genes identified to date that are responsible for the development, structural integrity and functioning of podocytes. Pathogenic nucleotide variants of these genes lead to the podocytopathy in steroid-resistant nephrotic syndrome in 30% of cases. Depending on the protein damaged, the severity of the course, the extrarenal manifestations as well as the therapeutic options may vary. The molecular genetic research has therefore resulted in the fore in recent decades when pediatric patients with steroid-resistant NS are diagnosed.

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来源期刊

Pediatriya - Zhurnal im G.N. Speranskogo Medicine-Pediatrics, Perinatology and Child Health

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0.60

自引率

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发文量

150

期刊介绍： Journal “Pediatria” named after G.N. Speransky (the official short names of the Journal are “Journal «Pediatria»,” “Pediatria,” and “«Pediatria,» the Journal”) is the oldest Soviet-and-Russian (in the Russian Federation, the CIS and former Soviet Union) scientific and practical medical periodical assigned for pediatricians that is published continuously since May, 1922, and distributed worldwide. Our mission statement specifies that we aim to the ‘raising the level of skills and education of pediatricians, organizers of children’s health protection services, medicine scientists, lecturers and students of medical institutes for higher education, universities and colleges worldwide with an emphasis on Russian-speaking audience and specific, topical problems of children’s healthcare in Russia, the CIS, Baltic States and former Soviet Union Countries and their determination with the use of the World’s best practices in pediatrics.’ As part of this objective, the Editorial of the Journal «Pediatria» named after G.N. Speransky itself adopts a neutral position on issues treated within the Journal. The Journal serves to further academic discussions of topics, irrespective of their nature - whether religious, racial-, gender-based, environmental, ethical, political or other potentially or topically contentious subjects. The Journal is registered with the ISSN, - the international identifier for serials and other continuing resources, in the electronic and print world: ISSN 0031-403X (Print), and ISSN 1990-2182 (Online). The Journal was founded by the Academician, Dr. Georgiy Nestorovich SPERANSKY, in May, 1922. Now (since 1973) the Journal bears his honorary name.