中国实用内科杂志2025，Vol.45Issue(3)：204-209,6.DOI:10.19538/j.nk2025030106
遗传性局灶节段性肾小球硬化的治疗新进展
Novel treatment advances in genetic focal segmental glomerulosclerosis
摘要
Abstract
Focal segmental glomerulosclerosis(FSGS)is a specific pattern of renal histological injury,which is characterized by the pathological changes in some glomeruli and some capillary loops.Podocyte injury and loss are the key mechanisms of FSGS progression.Genetic FSGS is usually caused by mutations in genes that affect normal physiological function of podocytes or glomerular basement membrane structure.These pathogenic genes mainly involve the genes closely related to glomerular filtration barrier function,including podocyte cytoskeleton,ion channels and protein synthesis.The main clinical manifestations are varying degrees of proteinuria and progressive renal failure,and some patients may also have hypertension and other symptoms.Although the etiology is complex and there is a lack of effective therapies,the deepening of the research on pathogenic genes and pathogenesis,especially the discovery of new therapeutic targets,brings hope to the effective treatment of this disease.At present,drug therapy mainly includes immunosuppression and supportive therapy to slow the progression of the disease,but these methods often cannot completely prevent the disease from worsening.In recent years,with the progress of genomics and molecular biology,new therapeutic strategies have been emerging,such as the study on new targets of inhibiting endoplasmic reticulum stress,repairing mitochondrial function,and regulating ion channels.In addition,gene therapy is considered as a fundamental treatment approach,and researchers are actively exploring gene editing technology to correct pathogenic mutations in order to provide patients with more effective treatment options.In the future,with the progress of science and technology,the treatment forgenetic FSGS is expected to make breakthroughs and provide more accurate and individualized treatment regimens.关键词
遗传性局灶节段性肾小球硬化/基因突变/药物治疗/基因治疗Key words
genetic focal segmental glomerulosclerosis/gene mutation/drug therapy/gene therapy分类
临床医学引用本文复制引用
叶心莹,陈嘉欣,谢静远..遗传性局灶节段性肾小球硬化的治疗新进展[J].中国实用内科杂志,2025,45(3):204-209,6.基金项目
国家自然科学基金(82370711,81870460,82120108007) （82370711,81870460,82120108007）
