How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside

Doloretta Piras1, Nicola Lepori1, Gianfranca Cabiddu1,2

  • 1Struttura Complessa di Nefrologia, Dialisi e Trapianto, ARNAS Brotzu, 09134 Cagliari, Italy.

Insights

Genetic analysis aids in managing chronic kidney disease (CKD) by identifying susceptibility, diagnosing monogenic causes, and guiding treatment. Understanding genetic factors improves clinical outcomes for CKD patients.

Area of Science:

  • Nephrology
  • Medical Genetics
  • Genomics

Background:

  • Chronic kidney disease (CKD) is a significant global health issue with substantial socio-economic impact.
  • Individuals with a first-degree relative affected by CKD have a threefold increased risk, highlighting genetic predisposition.

Purpose of the Study:

  • To review the clinical applications of genetic analysis in the management of patients with chronic kidney disease (CKD).
  • To provide clinicians with practical information on leveraging genetic insights for daily practice.

Main Methods:

  • Review of current literature on genetic factors in CKD.
  • Discussion of diagnostic, prognostic, and therapeutic implications of genetic analysis in CKD.

Main Results:

  • Genetic factors play a crucial role in CKD pathogenesis, including monogenic diseases and susceptibility variants.
  • Genetic analysis can aid in defining CKD susceptibility, identifying unrecognized monogenic conditions, and reclassifying etiological diagnoses.

Conclusions:

  • Genetic analysis is a valuable tool for clinicians in diagnosing, predicting prognosis, and guiding therapeutic strategies for CKD.
  • Pharmacogenetics, informed by genetic analysis, holds potential for personalized treatment approaches in CKD management.

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