# Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms

## TL;DR

This paper discusses the role of genetic testing in diagnosing chronic kidney disease with unknown causes, highlighting recent advances in methodology.

## Contribution

The paper introduces CKDx as a new diagnostic category and emphasizes updated genetic testing approaches for undiagnosed CKD cases.

## Key findings

- Genetic testing has become a critical tool in diagnosing CKDx cases with previously unknown causes.
- Recent improvements in genetic methodologies are helping clarify complex CKD cases.
- CKDx represents a clinically relevant subgroup of CKD patients requiring targeted genetic evaluation.

## 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.