Nephrocalcinosis: unveiling renal tubulopathies in the genomic era

This study represents a novel contribution to the national scientific landscape, revealing a limited access to genetic tests for patients with nephrocalcinosis, likely due to cost and availability constraints in the public healthcare system, and showed that a clinically oriented laboratory protocol may provide more precise indications. Notably, a phenotype suggestive of monogenic disease among 57.6% of adults with NC justifies the need for more frequent genetic investigations in this group.