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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.
Abstract:
Chronic kidney disease (CKD) is considered a major global health problem with high socio-economic costs: the risk of CKD in individuals with an affected first degree relative has been found to be three times higher than in the general population. Genetic factors are known to be involved in CKD pathogenesis, both due to the possible presence of monogenic pathologies as causes of CKD, and to the role of numerous gene variants in determining susceptibility to the development of CKD. The genetic study of CKD patients can represent a useful tool in the hands of the clinician; not only in the diagnostic and prognostic field, but potentially also in guiding therapeutic choices and in designing clinical trials. In this review we discuss the various aspects of the role of genetic analysis on clinical management of patients with CKD with a focus on clinical applications. Several topics are discussed in an effort to provide useful information for daily clinical practice: definition of susceptibility to the development of CKD, identification of unrecognized monogenic diseases, reclassification of the etiological diagnosis, role of pharmacogenetics.
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