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Characteristics and Yield of Modern Approaches for the Diagnosis of Genetic Causes of Kidney Stone Disease.

Genes - 14 Nov 2024

Spasiano Andrea, Treccani Mirko, De Tomi Elisa, Malerba Giovanni, Gambaro Giovanni, Ferraro Pietro Manuel

Abstract excerpt

BACKGROUND: Kidney stone disease (KSD) is characterized by an increasing prevalence worldwide, representing an important clinical issue and a financial burden for healthcare systems. A KSD-causing monogenic variant is traditionally expected in up to 30% of children and 1-5% of adults forming stones, confirmed by a strong connection between a positive family history and KSD. The insufficient use of genetic testing...

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PMID: 39596670
DOI: 10.3390/genes15111470
PMCID: PMC11593538

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