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Pruebas genéticas en la enfermedad renal crónica de causa no explicada (CKDx): perspectivas clínicas y paradigmas

Jan Halbritter¹, Matias Simons²

¹Charité - Universitätsmedizin Berlin Department of Nephrology and Medical Intensive Care Charitéplatz 1 10117 Berlin Germany.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

|February 19, 2026

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.

Palabras clave:

enfermedad renal crónica causa no explicada CKDx pruebas genéticas diagnóstico nefrología medicina interna genética

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