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The Dutch Federation for Nephrology (Nederlandse Federatie voor Nefrologie (NFN)) awarded Jeroen de Baaij and colleagues the Best Scientific Publication of 2022 Prize for the paper "Gitelman-like syndrome caused by pathogenic variants in the mitochondrial DNA".
Gitelman patients suffer from hypokalemic alkalosis, hypomagnesemia, and salt wasting. A subset of Gitelman syndrome cases remains genetically unsolved. A large international consortium led by the Radboudumc (Jeroen de Baaij, Tom Nijenhuis) identified pathogenic mitochondrial DNA (mtDNA) variants in the genes encoding the transfer RNAs for phenylalanine (MT-TF) and isoleucine (MT-TI) in 13 families with a Gitelman-like phenotype. These findings advocate for screening for mtDNA variants in unexplained Gitelman syndrome patients and influence genetic counseling of affected families.
Read the full publication here.
