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Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives

29 Jul 2025

Abstract excerpt

Introduction Variants in the Ras-related GTPase D ( RRAGD ) gene have been associated with autosomal dominant kidney hypomagnesemia (ADKH) characterized by hypokalemia, nephrocalcinosis, and dilated cardiomyopathy (DCM). RRAGD , which encodes for the RagD protein, is involved in the activation of the mechanistic target of rapamycin complex 1 (mTORC1). Owing to the limited characterization of patients' phenotypes,...

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PMID: 41141537
DOI: 10.1016/j.ekir.2025.07.035

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