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Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic
Jan Halbritter1, Matias Simons2
1Charité - Universitätsmedizin Berlin Department of Nephrology and Medical Intensive Care Charitéplatz 1 10117 Berlin Germany.
Insights
Chronic kidney disease of unexplained cause (CKDx) is a newly proposed diagnosis for patients lacking a clear etiology. Genetic testing is a key diagnostic tool for CKDx, with rapidly advancing methodologies.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Chronic kidney disease (CKD) poses a global health challenge with varied causes.
- A subset of CKD patients lack a defined etiology despite thorough investigation.
- Chronic kidney disease of unexplained cause (CKDx) is a recently proposed term for this subgroup.
Purpose of the Study:
- To introduce and define the concept of CKDx.
- To highlight the importance of genetic testing in diagnosing CKDx.
- To acknowledge advancements in genetic testing methodologies.
Main Methods:
- Extensive diagnostic evaluation for CKD patients.
- Identification of patients without a clear underlying cause.
- Focus on genetic testing as a primary diagnostic approach for CKDx.
Main Results:
- A specific patient subgroup with unexplained CKD has been identified.
- The term CKDx has been proposed for this subgroup.
- Genetic testing is recognized as a crucial component in the workup of CKDx.
Conclusions:
- CKDx represents a distinct clinical entity within chronic kidney disease.
- Advances in genetic testing are pivotal for diagnosing CKDx.
- Further research into the genetic underpinnings of CKDx is warranted.
Abstract:
Chronic kidney disease (CKD) represents a significant global health burden, with diverse etiologies and often complex clinical presentations. Among these, a notable subset of CKD patients present without a clear underlying cause despite extensive diagnostic evaluation. For this subgroup, the term CKDx - chronic kidney disease of unexplained cause, has recently been proposed. A major element of the diagnostic workup of CKDx is genetic testing, for which the methodology has greatly improved in the last years.
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