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.

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