Korean J Med > Volume 101(3); 2026 > Article
Nephrology
The Korean Journal of Medicine 2026;101(3):137-143.
Published online June 1, 2026.
DOI: https://doi.org/10.3904/kjm.2026.101.3.137   
From Genes to Clinics: The Genomic Paradigm Shift in Chronic Kidney Disease Diagnosis and Care
Woo Sik Yang1,2, Ho Sik Shin1,2
1Renal Division, Department of Internal Medicine, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, Korea
2Transplantation Research Institute, Kosin University College of Medicine, Busan, Korea
유전자에서 임상까지: 만성 콩팥병 진단과 치료에서의 유전체학적 패러다임 전환
양우식1,2, 신호식1,2
1고신대학교 의과대학 고신대학교복음병원 신장내과
2고신대학교 의과대학 장기이식연구소
Correspondence: 
Ho Sik Shin, Tel: +82-51-990-6108, Fax: +82-51-248-5686, Email: 67920@naver.com
Received: 24 October 2025   • Revised: 18 November 2025   • Accepted: 28 November 2025
Abstract
Chronic kidney disease (CKD) is undergoing a paradigm shift as genetic insights have reshaped its diagnosis and management. Rare monogenic variants explain a growing number of early onset and familial cases, while polygenic risk scores offer new tools for risk stratification. Emerging research, especially from Korean cohorts, has revealed modifiable gene-environment interactions and integrates genomics with metabolomics to uncover disease-specific pathways. Genetic testing plays a pivotal role in clinical reclassification and therapeutic decision-making. With the expansion of kidney genetics clinics, generalists and specialists must adapt to this era of precision. The journey from genes to clinics is no longer conceptual; rather, it redefines CKD care.
Key Words: Renal insufficiency, chronic; Genes; Clinics
주제어: 만성 콩팥병; 유전; 임상


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