title: Inherited disorders of renal hypomagnesaemia.
abstract: The kidney plays a key role in the maintenance of normal magnesium balance. The distal tubule of the kidney, namely the thick ascending limb of the loop of Henle and the distal convoluted tubule, is crucial for the regulation of serum magnesium levels and body magnesium content. The identification of molecular defects related to rare inherited magnesium losing disorders has contributed greatly to a better understanding of the process of renal magnesium handling. Since the number of genetic defects related to magnesium metabolism is still increasing, it might be expected that our knowledge on magnesium physiology will further improve. This knowledge will hopefully lead to therapeutic strategies that enable specific therapies for patients suffering from the symptoms and possible sequelae of chronic magnesium depletion.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Münster, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Konrad
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Münster, Germany.
authors.forename: Karl Peter
authors.initials: KP
authors.lastname: Schlingmann
mesh_terms: D006801:Humans; D053565:Hypercalciuria / Q000235:genetics*; D008274:Magnesium / Q000097:blood*; D008275:Magnesium Deficiency / Q000097:blood / Q000235:genetics*; D008664:Metal Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D009397:Nephrocalcinosis / Q000235:genetics*; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*
chemical_list: D008274:Magnesium
keywords: CLDN16; TRPM6; hypomagnesaemia; magnesium; renal genetics