ISSN 1674-3865  CN 21-1569/R
主管:国家卫生健康委员会
主办:中国医师协会
   辽宁省基础医学研究所
   辽宁中医药大学附属医院

中国中西医结合儿科学 ›› 2022, Vol. 14 ›› Issue (2): 123-126.

• 综述 • 上一篇    下一篇

激素抵抗型肾病综合征相关基因及基因多态性的研究进展

  

  • 出版日期:2022-04-25 上线日期:2023-12-01

Research progress in genes and gene polymorphisms related to steroid-resistant nephrotic syndrome

  • Published:2022-04-25 Online:2023-12-01

摘要: 目的 肾病综合征是由于肾小球滤过膜对血浆蛋白通透性增高,大量血浆蛋白自尿中丢失而导致一系列病理生理改变的一种临床综合征,以大量蛋白尿、低蛋白血症、高脂血症和水肿为其主要临床特点。该病在激素治疗下可以获得一定程度的缓解甚至痊愈,但仍有20%的患儿出现激素抵抗,最终进展为终末期肾病。基因方面的改变易导致激素抵抗型肾病综合征(SRNS)的发生。对SRNS相关基因及基因多态性进行研究,有利于加深对该病的认识,并指导临床。

关键词:

激素抵抗型肾病综合征, 基因, 足细胞, 免疫

Abstract:

Nephrotic syndrome is a clinical syndrome with a series of pathophysiological changes due to the increased permeability of glomerular filtration membrane to plasma protein and the loss of a large amount of plasma protein from urine. It is mainly characterized by massive proteinuria, hypoproteinemia, hyperlipidemia and edema.The disease can be relieved or even cured to a certain extent with hormone therapy, but there are still 20% of children with hormone resistance, which eventually progresses to end-stage renal disease. The changes of genes are very likely to lead to the occurrence of hormone-resistant nephrotic syndrome(SRNS). The study of SRNS-related genes and their polymorphisms is helpful to deepen the understanding of the disease and guide the clinical practice.

Key words:

Steroid resistant nephrotic syndrome, Genes, Podocyte, Immunization