摘要
常染色体显性多囊肾病(ADPKD)是全球最常见的遗传性肾脏疾病之一,ADPKD的表现差异大,从轻微肾问题到严重肾衰竭不等。该病由PKD1和PKD2基因突变引起,编码关键蛋白多囊蛋白1(PC1)和多囊蛋白2(PC2)。尽管对这些基因已有研究进展,但部分患者的遗传变异仍未明确,暗示其他未知基因参与病理过程。高通量测序和全基因组关联研究揭示多个候选基因,目前正在通过分子生物学和遗传学方法进行验证。研究这些潜在标志物对开发新治疗策略和改善ADPKD患者的临床管理至关重要。本文简述ADPKD的遗传学基础,探讨潜在基因标志物及其评估与应用,分析遗传异质性和表型差异,并展望未来的研究方向。
Autosomal dominant polycystic kidney disease(ADPKD) is one of the most common hereditary kidney diseases in the world.The manifestations of ADPKD vary greatly,ranging from mild renal problems to severe renal failure.The disease is caused by mutations in PKD1 and PKD2 genes,which encode the key proteins polycystin 1(PC1) and polycystin 2(PC2).Despite the research progress of these genes,the genetic variation of some patients is still unclear,suggesting that other unknown genes are involved in the pathological process.High-throughput sequencing and genome-wide association studies revealed a number of candidate genes,which are currently being verified by molecular biology and genetic methods.Studying these potential markers is very important for developing new treatment strategies and improving the clinical management of patients with ADPKD.In this paper,the genetic basis of ADPKD is briefly described,the potential genetic markers and their evaluation and application are investigated,the genetic heterogeneity and phenotypic differences are analyzed,and the future research direction is explored.
作者
谷丽芳
曾春艳
GU Lifang;ZENG Chunyan(Department of Nephrology,Hulunbuir People’s Hospital,Inner Mongolia,Hulunbuir 021000,China)
出处
《中国医药科学》
2024年第24期31-34,共4页
China Medicine And Pharmacy
基金
内蒙古自治区呼伦贝尔市科技计划(SF2023012)。
作者简介
谷丽芳,内蒙古民族大学临床医学院2022级内科学专业在读硕士研究生;通讯作者:曾春艳。
