Publications Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review 5 Oct 20239 Jul 2024 Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF. J Am Soc Nephrol. 2023 Nov 1;34(11):1875-1888. Abstract Background: Electrolyte reabsorption in the kidney has a high energy demand. Proximal and…
Publications Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome 27 Oct 20229 Jan 2023 Background - Gitelman syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. It is caused by homozygous recessive or compound heterozygous pathogenic variants in SLC12A3 , which encodes the Na+-Cl− cotransporter (NCC). In…
Publications Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA 9 Feb 20229 Jan 2023 Background: Gitelman syndrome is the most frequent hereditary salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. Gitelman syndrome is caused by biallelic pathogenic variants in SLC12A3, encoding the Na+-Cl- cotransporter (NCC) expressed in the…
Publications mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy 4 Oct 20219 Jan 2023 Background: Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Nevertheless, approximately 20% of all patients with…
Kidney Physiology 