To do or not to do-genetic testing for autosomal dominant polycystic kidney disease in children and adolescents.

Ma, Becky Mingyao; Milo Rasouly, Hila; Sabatello, Maya · Kidney Int · 2025

expert_opinion · Level V

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Abstract

Despite increasing evidence of the clinical utility of genetic testing in adults with autosomal dominant polycystic kidney disease, its benefits in asymptomatic children, including adolescents, remain controversial. Although there may be medical benefits in an early accurate molecular diagnosis for targeted disease monitoring and intervention, these benefits need to be carefully balanced against the potential legal, ethical, psychological, and socioeconomic harms for a developing child and adolescent. Comprehensive genetic counseling is essential to facilitate family-centered decision-making.

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