原发性肾脏病遗传学研究进展
Research Progress of Genetics in Primary Kidney Disease
DOI: 10.12677/acm.2024.14123040, PDF,   
作者: 李昭晴：黑龙江中医药大学第一临床医学院，黑龙江 哈尔滨；金丽霞*：黑龙江中医药大学附属第四医院肾病科，黑龙江 哈尔滨
关键词: 原发性肾脏病；遗传；全基因组关联研究；易感基因；研究进展；Primary Kidney Disease； Genetics； Genome-Wide Association Studies； Susceptibility Genes； Research Progress
摘要: 原发性肾脏病(PKD)具有遗传易感性，其发生有家族聚集性和种族差异，是一种复杂的多基因疾病。遗传因素在PKD的发展中起着重要作用，也是导致慢性肾脏病(CKD)的重要原因。继遗传学分析研究及全基因组关联研究(GWAS)分析后，发现遗传因素和多个易感基因在PKD的发病机制和进展中扮演着重要角色。遗传学研究有助于阐明PKD的病理生理机制，相关的细胞类型特异性易感基因的研究为PKD的预防和治疗提供新的可能性，为相关靶向药物的研发提供新思路，也有助于开发早期诊断和预防的新策略。
Abstract: Primary kidney disease (PKD) is genetically susceptible, with familial aggregation and racial differences in its occurrence, and is a complex polygenic disease. Genetic factors play an important role in the development of PKD and are also important causes of chronic kidney disease (CKD). Following genetic analysis studies and genome-wide association study (GWAS) analyses, genetic factors and multiple susceptibility genes have been found to play important roles in the pathogenesis and progression of PKD. Genetic studies have helped to elucidate the pathophysiological mechanisms of PKD, and the study of related cell type-specific susceptibility genes has provided new possibilities for the prevention and treatment of PKD, new ideas for the development of related targeted drugs, and the development of new strategies for early diagnosis and prevention.
文章引用：李昭晴, 金丽霞. 原发性肾脏病遗传学研究进展[J]. 临床医学进展, 2024, 14(12): 1-6. https://doi.org/10.12677/acm.2024.14123040

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