Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study

20260 citationsJournal Article

Authors

Elif G. Bozkurt · Mayo Clinic

Mohamad Sheikh Najeeb · Mayo Clinic

Hana Yang · Mayo Clinic

Jennifer Kemppainen · Mayo Clinic

Byron H. Smith · Mayo Clinic

Adriana Gregory · Mayo Clinic

Tracy A. Baker · Mayo Clinic

Abstract

Comprehensive genetic testing in pediatric kidney cysts achieved high diagnostic yield in a selected cohort and identified diverse causes beyond major ADPKD/ARPKD genes, supporting early evaluation to improve diagnostic accuracy, inform prognosis, and guide management, even in the absence of family history.

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Published in: Clinical Journal of the American Society of Nephrology

DOI: 10.2215/cjn.0000001027

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Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study

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Abstract

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Publication Details