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Korean J Med.  2026 Jun;101(3):137-143. 10.3904/kjm.2026.101.3.137.

From Genes to Clinics: The Genomic Paradigm Shift in Chronic Kidney Disease Diagnosis and Care

Affiliations
  • 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

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.

Keyword

Renal insufficiency, chronic; Genes; Clinics; 만성 콩팥병; 유전; 임상
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