{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T12:23:35Z","timestamp":1784031815894,"version":"3.55.0"},"reference-count":128,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec>\n            <jats:title>Purpose of review<\/jats:title>\n            <jats:p>Magnesium (Mg<jats:sup>2+<\/jats:sup>) imbalances are frequently overlooked. Hypermagnesemia usually occurs in preeclamptic women after Mg<jats:sup>2+<\/jats:sup> therapy or in end-stage renal disease patients, whereas hypomagnesemia is more common with a prevalence of up to 15% in the general population. Increasing evidence points toward a role for mild-to-moderate chronic hypomagnesemia in the pathogenesis of hypertension, type 2 diabetes mellitus, and metabolic syndrome.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Recent findings<\/jats:title>\n            <jats:p>The kidneys are the major regulator of total body Mg<jats:sup>2+<\/jats:sup> homeostasis. Over the last decade, the identification of the responsible genes in rare genetic disorders has enhanced our understanding of how the kidney handles Mg<jats:sup>2+<\/jats:sup>. The different genetic disorders and medications contributing to abnormal Mg<jats:sup>2+<\/jats:sup> homeostasis are reviewed.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Summary<\/jats:title>\n            <jats:p>As dysfunctional Mg<jats:sup>2+<\/jats:sup> homeostasis contributes to the development of many common human disorders, serum Mg<jats:sup>2+<\/jats:sup> deserves closer monitoring. Hypomagnesemic patients may be asymptomatic or may have mild symptoms. In severe hypomagnesemia, patients may present with neurological symptoms such as seizures, spasms, or cramps. Renal symptoms include nephrocalcinosis and impaired renal function. Most conditions affect tubular Mg<jats:sup>2+<\/jats:sup> reabsorption by disturbing the lumen-positive potential in the thick ascending limb or the negative membrane potential in the distal convoluted tubule.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/mop.0000000000000450","type":"journal-article","created":{"date-parts":[[2016,11,30]],"date-time":"2016-11-30T17:25:45Z","timestamp":1480526745000},"page":"187-198","source":"Crossref","is-referenced-by-count":22,"title":["Inherited and acquired disorders of magnesium homeostasis"],"prefix":"10.1097","volume":"29","author":[{"given":"Matthias Tilmann Florian","family":"Wolf","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20230918","first-page":"257","article-title":"Magnesium metabolism: a review","volume":"18","author":"Ebel","year":"1980","journal-title":"J Clin Chem Clin Biochem"},{"key":"R2-20230918","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1152\/physrev.00012.2014","article-title":"Magnesium in man: implications for health and disease","volume":"95","author":"de Baaij","year":"2015","journal-title":"Physiol Rev"},{"key":"R3-20230918","doi-asserted-by":"crossref","first-page":"3063","DOI":"10.1001\/jama.1990.03440220087036","article-title":"Frequency of hypomagnesemia and hypermagnesemia. Requested vs routine","volume":"263","author":"Whang","year":"1990","journal-title":"JAMA"},{"key":"R4-20230918","doi-asserted-by":"crossref","first-page":"219","DOI":"10.2147\/IJNRD.S42054","article-title":"Hypomagnesemia: a clinical perspective","volume":"7","author":"Pham","year":"2014","journal-title":"Int J Nephrol Renovasc Dis"},{"key":"R5-20230918","first-page":"283","article-title":"Prevalence of hypomagnesemia in an unselected German population of 16,000 individuals","volume":"14","author":"Schimatschek","year":"2001","journal-title":"Magnes Res"},{"key":"R6-20230918","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1161\/CIRCULATIONAHA.105.588327","article-title":"Magnesium intake and incidence of metabolic syndrome among young adults","volume":"113","author":"He","year":"2006","journal-title":"Circulation"},{"key":"R7-20230918","doi-asserted-by":"crossref","first-page":"68","DOI":"10.3945\/jn.109.112441","article-title":"Dietary fiber, magnesium, and glycemic load alter risk of type 2 diabetes in a multiethnic cohort in Hawaii","volume":"140","author":"Hopping","year":"2010","journal-title":"J Nutr"},{"key":"R8-20230918","doi-asserted-by":"crossref","first-page":"134","DOI":"10.2337\/diacare.27.1.134","article-title":"Magnesium intake and risk of type 2 diabetes in men and women","volume":"27","author":"Lopez-Ridaura","year":"2004","journal-title":"Diabetes Care"},{"key":"R9-20230918","doi-asserted-by":"crossref","first-page":"366","DOI":"10.2215\/CJN.02960906","article-title":"Hypomagnesemia in patients with type 2 diabetes","volume":"2","author":"Pham","year":"2007","journal-title":"Clin J Am Soc Nephrol"},{"key":"R10-20230918","doi-asserted-by":"crossref","first-page":"93.e1","DOI":"10.1016\/j.jpeds.2015.09.050","article-title":"Low serum magnesium levels and its association with high blood pressure in children","volume":"168","author":"Guerrero-Romero","year":"2016","journal-title":"J Pediatr"},{"key":"R11-20230918","doi-asserted-by":"crossref","first-page":"160","DOI":"10.3945\/ajcn.112.053132","article-title":"Circulating and dietary magnesium and risk of cardiovascular disease: a systematic review and meta-analysis of prospective studies","volume":"98","author":"Del Gobbo","year":"2013","journal-title":"Am J Clin Nutr"},{"key":"R12-20230918","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1038\/ki.2014.331","article-title":"Results from the Atherosclerosis Risk in Communities study suggest that low serum magnesium is associated with incident kidney disease","volume":"87","author":"Tin","year":"2015","journal-title":"Kidney Int"},{"key":"R13-20230918","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1097\/IGC.0000000000000766","article-title":"Hypomagnesemia is prevalent in patients undergoing gynecologic surgery by a gynecologic oncologist","volume":"26","author":"Ulm","year":"2016","journal-title":"Int J Gynecol Cancer"},{"key":"R14-20230918","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/S0002-8703(98)70224-8","article-title":"Is low magnesium concentration a risk factor for coronary heart disease? The Atherosclerosis Risk in Communities (ARIC) Study","volume":"136","author":"Liao","year":"1998","journal-title":"Am Heart J"},{"key":"R15-20230918","doi-asserted-by":"crossref","first-page":"e18237","DOI":"10.1371\/journal.pone.0018237","article-title":"Blood magnesium, and the interaction with calcium, on the risk of high-grade prostate cancer","volume":"6","author":"Dai","year":"2011","journal-title":"PLoS One"},{"key":"R16-20230918","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1074\/jbc.M112.393918","article-title":"Increase in serum Ca2+\/Mg2+ ratio promotes proliferation of prostate cancer cells by activating TRPM7 channels","volume":"288","author":"Sun","year":"2013","journal-title":"J Biol Chem"},{"key":"R17-20230918","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1172\/JCI115317","article-title":"Intestinal absorption of magnesium from food and supplements","volume":"88","author":"Fine","year":"1991","journal-title":"J Clin Invest"},{"key":"R18-20230918","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1097\/MOG.0b013e3282f37b59","article-title":"Recent developments in intestinal magnesium absorption","volume":"24","author":"Quamme","year":"2008","journal-title":"Curr Opin Gastroenterol"},{"key":"R19-20230918","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1007\/s00424-005-1470-y","article-title":"Essential role for TRPM6 in epithelial magnesium transport and body magnesium homeostasis","volume":"451","author":"Chubanov","year":"2005","journal-title":"Pflugers Arch"},{"key":"R20-20230918","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1172\/JCI110514","article-title":"Magnesium transport in the cortical thick ascending limb of Henle's loop of the rabbit","volume":"69","author":"Shareghi","year":"1982","journal-title":"J Clin Invest"},{"key":"R21-20230918","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1152\/ajplegacy.1974.227.4.891","article-title":"Micropuncture study of magnesium transport along the nephron in the young rat","volume":"227","author":"Brunette","year":"1974","journal-title":"Am J Physiol"},{"key":"R22-20230918","first-page":"32","article-title":"Calciotropic and magnesiotropic TRP channels","volume":"23","author":"Hoenderop","year":"2008","journal-title":"Physiology (Bethesda)"},{"key":"R23-20230918","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1681\/ASN.2004070523","article-title":"Epithelial Ca2+ and Mg2+ channels in health and disease","volume":"16","author":"Hoenderop","year":"2005","journal-title":"J Am Soc Nephrol"},{"key":"R24-20230918","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1111\/j.1365-2036.2012.05201.x","article-title":"Systematic review: hypomagnesaemia induced by proton pump inhibition","volume":"36","author":"Hess","year":"2012","journal-title":"Aliment Pharmacol Ther"},{"key":"R25-20230918","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1111\/j.1365-2265.2008.03194.x","article-title":"Severe hypomagnesaemia in long-term users of proton-pump inhibitors","volume":"69","author":"Cundy","year":"2008","journal-title":"Clin Endocrinol (Oxf)"},{"key":"R26-20230918","doi-asserted-by":"crossref","first-page":"c4412","DOI":"10.1136\/bmj.c4412","article-title":"Proton pump inhibitors and acute interstitial nephritis","volume":"341","author":"Ray","year":"2010","journal-title":"BMJ"},{"key":"R27-20230918","first-page":"F340","article-title":"Effect of furosemide on calcium and magnesium transport in the rat nephron","volume":"241","author":"Quamme","year":"1981","journal-title":"Am J Physiol"},{"key":"R28-20230918","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1172\/JCI24134","article-title":"Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia","volume":"115","author":"Nijenhuis","year":"2005","journal-title":"J Clin Invest"},{"key":"R29-20230918","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1053\/ctrv.1999.0097","article-title":"Cisplatin and hypomagnesemia","volume":"25","author":"Lajer","year":"1999","journal-title":"Cancer Treat Rev"},{"key":"R30-20230918","doi-asserted-by":"crossref","first-page":"1362","DOI":"10.1002\/1097-0142(197704)39:4<1362::AID-CNCR2820390403>3.0.CO;2-N","article-title":"The renal pathology in clinical trials of cis-platinum (II) diamminedichloride","volume":"39","author":"Gonzales-Vitale","year":"1977","journal-title":"Cancer"},{"key":"R31-20230918","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.toxlet.2015.06.012","article-title":"An integrated view of cisplatin-induced nephrotoxicity and ototoxicity","volume":"237","author":"Karasawa","year":"2015","journal-title":"Toxicol Lett"},{"key":"R32-20230918","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1681\/ASN.2015010079","article-title":"Three-dimensional morphology by multiphoton microscopy with clearing in a model of cisplatin-induced CKD","volume":"27","author":"Torres","year":"2016","journal-title":"J Am Soc Nephrol"},{"key":"R33-20230918","doi-asserted-by":"crossref","first-page":"F369","DOI":"10.1152\/ajprenal.00127.2014","article-title":"Magnesium protects against cisplatin-induced acute kidney injury by regulating platinum accumulation","volume":"307","author":"Solanki","year":"2014","journal-title":"Am J Physiol Renal Physiol"},{"key":"R34-20230918","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1111\/j.1432-2277.2003.tb00267.x","article-title":"Long-term calcineurin inhibition and magnesium balance after renal transplantation","volume":"16","author":"Mazzola","year":"2003","journal-title":"Transpl Int"},{"key":"R35-20230918","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1097\/01.ASN.0000113318.56023.B6","article-title":"Downregulation of Ca(2+) and Mg(2+) transport proteins in the kidney explains tacrolimus (FK506)-induced hypercalciuria and hypomagnesemia","volume":"15","author":"Nijenhuis","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"R36-20230918","doi-asserted-by":"crossref","first-page":"F486","DOI":"10.1152\/ajprenal.00116.2011","article-title":"Expression of renal distal tubule transporters TRPM6 and NCC in a rat model of cyclosporine nephrotoxicity and effect of EGF treatment","volume":"301","author":"Ledeganck","year":"2011","journal-title":"Am J Physiol Renal Physiol"},{"key":"R37-20230918","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1093\/ndt\/gfl817","article-title":"Ciclosporin reduces paracellin-1 expression and magnesium transport in thick ascending limb cells","volume":"22","author":"Chang","year":"2007","journal-title":"Nephrol Dial Transplant"},{"key":"R38-20230918","doi-asserted-by":"crossref","first-page":"2260","DOI":"10.1172\/JCI31680","article-title":"Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia","volume":"117","author":"Groenestege","year":"2007","journal-title":"J Clin Invest"},{"key":"R39-20230918","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1681\/ASN.2008030327","article-title":"EGF increases TRPM6 activity and surface expression","volume":"20","author":"Thebault","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"R40-20230918","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1159\/000067797","article-title":"Aminoglycoside-induced reversible tubular dysfunction","volume":"67","author":"Alexandridis","year":"2003","journal-title":"Pharmacology"},{"key":"R41-20230918","doi-asserted-by":"crossref","first-page":"F337","DOI":"10.1152\/ajprenal.2001.281.2.F337","article-title":"Role of megalin in renal handling of aminoglycosides","volume":"281","author":"Nagai","year":"2001","journal-title":"Am J Physiol Renal Physiol"},{"key":"R42-20230918","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1681\/ASN.V1291872","article-title":"Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis","volume":"12","author":"Weber","year":"2001","journal-title":"J Am Soc Nephrol"},{"key":"R43-20230918","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0026-0495(72)90025-X","article-title":"Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. (Evaluation of the pathophysiological role of parathyroid hormone)","volume":"21","author":"Michelis","year":"1972","journal-title":"Metabolism"},{"key":"R44-20230918","doi-asserted-by":"crossref","first-page":"e53151","DOI":"10.1371\/journal.pone.0053151","article-title":"Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis","volume":"8","author":"Claverie-Martin","year":"2013","journal-title":"PLoS One"},{"key":"R45-20230918","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1681\/ASN.2007060709","article-title":"CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis","volume":"19","author":"Konrad","year":"2008","journal-title":"J Am Soc Nephrol"},{"key":"R46-20230918","doi-asserted-by":"crossref","first-page":"801","DOI":"10.2215\/CJN.12841211","article-title":"Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations","volume":"7","author":"Godron","year":"2012","journal-title":"Clin J Am Soc Nephrol"},{"key":"R47-20230918","article-title":"Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations","author":"Yamaguti","year":"2016","journal-title":"J Med Genet"},{"key":"R48-20230918","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1007\/s00467-002-0884-4","article-title":"Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene","volume":"17","author":"Wolf","year":"2002","journal-title":"Pediatr Nephrol"},{"key":"R49-20230918","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1126\/science.285.5424.103","article-title":"Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption","volume":"285","author":"Simon","year":"1999","journal-title":"Science"},{"key":"R50-20230918","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1086\/508617","article-title":"Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement","volume":"79","author":"Konrad","year":"2006","journal-title":"Am J Hum Genet"},{"key":"R51-20230918","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1681\/ASN.2014030284","article-title":"Claudins and the kidney","volume":"26","author":"Yu","year":"2015","journal-title":"J Am Soc Nephrol"},{"key":"R52-20230918","first-page":"619","article-title":"Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex","volume":"118","author":"Hou","year":"2008","journal-title":"J Clin Invest"},{"key":"R53-20230918","doi-asserted-by":"crossref","first-page":"15350","DOI":"10.1073\/pnas.0907724106","article-title":"Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium","volume":"106","author":"Hou","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R54-20230918","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1101\/gr.10.5.659","article-title":"Null mutation of PCLN-1\/Claudin-16 results in bovine chronic interstitial nephritis","volume":"10","author":"Hirano","year":"2000","journal-title":"Genome Res"},{"key":"R55-20230918","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1046\/j.1365-2052.2000.00589.x","article-title":"Genetic mapping of a locus associated with bovine chronic interstitial nephritis to chromosome 1","volume":"31","author":"Kobayashi","year":"2000","journal-title":"Anim Genet"},{"key":"R56-20230918","doi-asserted-by":"crossref","first-page":"F1152","DOI":"10.1152\/ajprenal.00499.2009","article-title":"Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting","volume":"298","author":"Will","year":"2010","journal-title":"Am J Physiol Renal Physiol"},{"key":"R57-20230918","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1083\/jcb.200501154","article-title":"Tight junctions in Schwann cells of peripheral myelinated axons: a lesson from claudin-19-deficient mice","volume":"169","author":"Miyamoto","year":"2005","journal-title":"J Cell Biol"},{"key":"R58-20230918","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1093\/ndt\/gfl144","article-title":"Hydrochlorothiazide in CLDN16 mutation","volume":"21","author":"Zimmermann","year":"2006","journal-title":"Nephrol Dial Transplant"},{"key":"R59-20230918","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1056\/NEJM199610103351505","article-title":"A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor","volume":"335","author":"Pearce","year":"1996","journal-title":"N Engl J Med"},{"key":"R60-20230918","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1016\/0092-8674(93)90617-Y","article-title":"Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism","volume":"75","author":"Pollak","year":"1993","journal-title":"Cell"},{"key":"R61-20230918","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/ng1194-303","article-title":"Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation","volume":"8","author":"Pollak","year":"1994","journal-title":"Nat Genet"},{"key":"R62-20230918","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1152\/physrev.2001.81.1.239","article-title":"Extracellular calcium sensing and extracellular calcium signaling","volume":"81","author":"Brown","year":"2001","journal-title":"Physiol Rev"},{"key":"R63-20230918","first-page":"F353","article-title":"Mg2+\/Ca2+ sensing inhibits hormone-stimulated Mg2+ uptake in mouse distal convoluted tubule cells","volume":"275","author":"Bapty","year":"1998","journal-title":"Am J Physiol"},{"key":"R64-20230918","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/S0140-6736(02)09842-2","article-title":"Association between activating mutations of calcium-sensing receptor and Bartter's syndrome","volume":"360","author":"Watanabe","year":"2002","journal-title":"Lancet"},{"key":"R65-20230918","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1242\/jeb.200.2.295","article-title":"Role of the Ca(2+)-sensing receptor in divalent mineral ion homeostasis","volume":"200","author":"Hebert","year":"1997","journal-title":"J Exp Biol"},{"key":"R66-20230918","doi-asserted-by":"crossref","first-page":"11864","DOI":"10.1073\/pnas.1411705111","article-title":"KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1)","volume":"111","author":"Zhang","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R67-20230918","doi-asserted-by":"crossref","first-page":"1999","DOI":"10.1038\/emboj.2012.49","article-title":"Claudin-14 regulates renal Ca(+)(+) transport in response to CaSR signalling via a novel microRNA pathway","volume":"31","author":"Gong","year":"2012","journal-title":"Embo J"},{"key":"R68-20230918","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1681\/ASN.2014020129","article-title":"Epigenetic regulation of microRNAs controlling CLDN14 expression as a mechanism for renal calcium handling","volume":"26","author":"Gong","year":"2015","journal-title":"J Am Soc Nephrol"},{"key":"R69-20230918","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1681\/ASN.2012030323","article-title":"Deficiency of the calcium-sensing receptor in the kidney causes parathyroid hormone-independent hypocalciuria","volume":"23","author":"Toka","year":"2012","journal-title":"J Am Soc Nephrol"},{"key":"R70-20230918","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/0002-9343(62)90214-0","article-title":"Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome","volume":"33","author":"Bartter","year":"1962","journal-title":"Am J Med"},{"key":"R71-20230918","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1046\/j.1523-1755.2003.00730.x","article-title":"A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes","volume":"63","author":"Zelikovic","year":"2003","journal-title":"Kidney Int"},{"key":"R72-20230918","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1203\/00006450-200012000-00009","article-title":"Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype","volume":"48","author":"Jeck","year":"2000","journal-title":"Pediatr Res"},{"key":"R73-20230918","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng1097-171","article-title":"Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III","volume":"17","author":"Simon","year":"1997","journal-title":"Nat Genet"},{"key":"R74-20230918","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1681\/ASN.V1181449","article-title":"Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome","volume":"11","author":"Konrad","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"R75-20230918","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng752","article-title":"Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure","volume":"29","author":"Birkenhager","year":"2001","journal-title":"Nat Genet"},{"key":"R76-20230918","article-title":"Genetic causes of hypomagnesemia, a clinical overview","author":"Viering","year":"2016","journal-title":"Pediatr Nephrol"},{"key":"R77-20230918","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1097\/00041552-200309000-00008","article-title":"Bartter syndrome","volume":"12","author":"Hebert","year":"2003","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"R78-20230918","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1159\/000094001","article-title":"Bartter syndromes and other salt-losing tubulopathies","volume":"104","author":"Kleta","year":"2006","journal-title":"Nephron Physiol"},{"key":"R79-20230918","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.0954-6820.1988.tb16755.x","article-title":"Bartter's syndrome. A review of 28 patients followed for 10 years","volume":"224","author":"Rudin","year":"1988","journal-title":"Acta Med Scand"},{"key":"R80-20230918","first-page":"221","article-title":"A new familial disorder characterized by hypokalemia and hypomagnesemia","volume":"79","author":"Gitelman","year":"1966","journal-title":"Trans Assoc Am Physicians"},{"key":"R81-20230918","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1046\/j.1523-1755.2001.059002710.x","article-title":"Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life","volume":"59","author":"Cruz","year":"2001","journal-title":"Kidney Int"},{"key":"R82-20230918","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng0196-24","article-title":"Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter","volume":"12","author":"Simon","year":"1996","journal-title":"Nat Genet"},{"key":"R83-20230918","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1203\/PDR.0b013e3181b9b4d3","article-title":"A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome","volume":"66","author":"Nozu","year":"2009","journal-title":"Pediatr Res"},{"key":"R84-20230918","doi-asserted-by":"crossref","first-page":"630","DOI":"10.2215\/CJN.06730810","article-title":"Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome","volume":"6","author":"Lo","year":"2011","journal-title":"Clin J Am Soc Nephrol"},{"key":"R85-20230918","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1681\/ASN.2010090907","article-title":"Spectrum of mutations in Gitelman syndrome","volume":"22","author":"Vargas-Poussou","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"R86-20230918","doi-asserted-by":"crossref","first-page":"29150","DOI":"10.1074\/jbc.273.44.29150","article-title":"Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl- cotransporter of the distal convoluted tubule","volume":"273","author":"Schultheis","year":"1998","journal-title":"J Biol Chem"},{"key":"R87-20230918","doi-asserted-by":"crossref","first-page":"2276","DOI":"10.1097\/01.ASN.0000138234.18569.63","article-title":"Altered renal distal tubule structure and renal Na(+) and Ca(2+) handling in a mouse model for Gitelman's syndrome","volume":"15","author":"Loffing","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"R88-20230918","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1002\/humu.21364","article-title":"Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc\/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome","volume":"31","author":"Yang","year":"2010","journal-title":"Hum Mutat"},{"key":"R89-20230918","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1056\/NEJMoa0810276","article-title":"Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations","volume":"360","author":"Bockenhauer","year":"2009","journal-title":"N Engl J Med"},{"key":"R90-20230918","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1111\/dmcn.12171","article-title":"Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome","volume":"55","author":"Cross","year":"2013","journal-title":"Dev Med Child Neurol"},{"key":"R91-20230918","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/s00424-010-0915-0","article-title":"The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel","volume":"461","author":"Bandulik","year":"2011","journal-title":"Pflugers Arch"},{"key":"R92-20230918","doi-asserted-by":"crossref","first-page":"5842","DOI":"10.1073\/pnas.0901749106","article-title":"Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10","volume":"106","author":"Scholl","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R93-20230918","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1159\/000356353","article-title":"KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16","volume":"123","author":"Parrock","year":"2013","journal-title":"Nephron Physiol"},{"key":"R94-20230918","doi-asserted-by":"crossref","first-page":"F1288","DOI":"10.1152\/ajprenal.00687.2014","article-title":"KCNJ10 (Kir4.1) is expressed in the basolateral membrane of the cortical thick ascending limb","volume":"308","author":"Zhang","year":"2015","journal-title":"Am J Physiol Renal Physiol"},{"key":"R95-20230918","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/81543","article-title":"Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit","volume":"26","author":"Meij","year":"2000","journal-title":"Nat Genet"},{"key":"R96-20230918","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1172\/JCI36948","article-title":"A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia","volume":"119","author":"Glaudemans","year":"2009","journal-title":"J Clin Invest"},{"key":"R97-20230918","doi-asserted-by":"crossref","first-page":"19003","DOI":"10.1074\/jbc.M500697200","article-title":"Na,K-ATPase from mice lacking the gamma subunit (FXYD2) exhibits altered Na+ affinity and decreased thermal stability","volume":"280","author":"Jones","year":"2005","journal-title":"J Biol Chem"},{"key":"R98-20230918","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1111\/j.1749-6632.2003.tb07218.x","article-title":"FXYD proteins as regulators of the Na,K-ATPase in the kidney","volume":"986","author":"Sweadner","year":"2003","journal-title":"Ann N Y Acad Sci"},{"key":"R99-20230918","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1093\/ndt\/gfv014","article-title":"Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia","volume":"30","author":"de Baaij","year":"2015","journal-title":"Nephrol Dial Transplant"},{"key":"R100-20230918","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/ng1094-136","article-title":"Episodic ataxia\/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1","volume":"8","author":"Browne","year":"1994","journal-title":"Nat Genet"},{"key":"R101-20230918","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/ng1297-384","article-title":"Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY","volume":"17","author":"Horikawa","year":"1997","journal-title":"Nat Genet"},{"key":"R102-20230918","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/nrneph.2014.232","article-title":"HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum","volume":"11","author":"Clissold","year":"2015","journal-title":"Nat Rev Nephrol"},{"key":"R103-20230918","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1007\/s00467-016-3421-6","article-title":"Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation","volume":"31","author":"Gondra","year":"2016","journal-title":"Pediatr Nephrol"},{"key":"R104-20230918","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1681\/ASN.2015050544","article-title":"Hepatocyte nuclear factor 1\u03b2-associated kidney disease: more than renal cysts and diabetes","volume":"27","author":"Verhave","year":"2016","journal-title":"J Am Soc Nephrol"},{"key":"R105-20230918","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1007\/s00467-015-3142-2","article-title":"HNF1B-associated clinical phenotypes: the kidney and beyond","volume":"31","author":"Bockenhauer","year":"2016","journal-title":"Pediatr Nephrol"},{"key":"R106-20230918","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1681\/ASN.2008060633","article-title":"HNF1B mutations associate with hypomagnesemia and renal magnesium wasting","volume":"20","author":"Adalat","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"R107-20230918","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.bbrc.2010.11.108","article-title":"HNF-1B specifically regulates the transcription of the gammaa-subunit of the Na+\/K+-ATPase","volume":"404","author":"Ferre","year":"2011","journal-title":"Biochem Biophys Res Commun"},{"key":"R108-20230918","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1007\/s004390050800","article-title":"Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia","volume":"103","author":"Thony","year":"1998","journal-title":"Hum Genet"},{"key":"R109-20230918","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1681\/ASN.2013040337","article-title":"Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting","volume":"25","author":"Ferre","year":"2014","journal-title":"J Am Soc Nephrol"},{"key":"R110-20230918","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1111\/j.1399-0004.1987.tb03157.x","article-title":"Isolated autosomal recessive renal magnesium loss in two sisters","volume":"32","author":"Geven","year":"1987","journal-title":"Clin Genet"},{"key":"R111-20230918","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/S1470-2045(07)70108-0","article-title":"Magnesium wasting associated with epidermal-growth-factor receptor-targeting antibodies in colorectal cancer: a prospective study","volume":"8","author":"Tejpar","year":"2007","journal-title":"Lancet Oncol"},{"key":"R112-20230918","first-page":"385","article-title":"Primary hypomagnesemia with secondary hypocalcemia in an infant","volume":"41","author":"Paunier","year":"1968","journal-title":"Pediatrics"},{"key":"R113-20230918","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1136\/gut.20.11.1028","article-title":"Studies in primary hypomagnesaemia: evidence for defective carrier-mediated small intestinal transport of magnesium","volume":"20","author":"Milla","year":"1979","journal-title":"Gut"},{"key":"R114-20230918","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1126\/science.177.4049.606","article-title":"Evidence for parathyroid failure in magnesium deficiency","volume":"177","author":"Anast","year":"1972","journal-title":"Science"},{"key":"R115-20230918","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1136\/adc.78.2.127","article-title":"Clinical presentation and outcome in primary familial hypomagnesaemia","volume":"78","author":"Shalev","year":"1998","journal-title":"Arch Dis Child"},{"key":"R116-20230918","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1038\/ng889","article-title":"Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family","volume":"31","author":"Schlingmann","year":"2002","journal-title":"Nat Genet"},{"key":"R117-20230918","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng901","article-title":"Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia","volume":"31","author":"Walder","year":"2002","journal-title":"Nat Genet"},{"key":"R118-20230918","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1074\/jbc.M311201200","article-title":"TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption","volume":"279","author":"Voets","year":"2004","journal-title":"J Biol Chem"},{"key":"R119-20230918","doi-asserted-by":"crossref","first-page":"2894","DOI":"10.1073\/pnas.0305252101","article-title":"Disruption of TRPM6\/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia","volume":"101","author":"Chubanov","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R120-20230918","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1681\/ASN.2005070700","article-title":"The epithelial Mg2+ channel transient receptor potential melastatin 6 is regulated by dietary Mg2+ content and estrogens","volume":"17","author":"Groenestege","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"R121-20230918","doi-asserted-by":"crossref","first-page":"14788","DOI":"10.1074\/jbc.M808752200","article-title":"Regulation of the epithelial Mg2+ channel TRPM6 by estrogen and the associated repressor protein of estrogen receptor activity (REA)","volume":"284","author":"Cao","year":"2009","journal-title":"J Biol Chem"},{"key":"R122-20230918","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.ajhg.2011.02.005","article-title":"CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia","volume":"88","author":"Stuiver","year":"2011","journal-title":"Am J Hum Genet"},{"key":"R123-20230918","doi-asserted-by":"crossref","first-page":"e1004267","DOI":"10.1371\/journal.pgen.1004267","article-title":"CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia","volume":"10","author":"Arjona","year":"2014","journal-title":"PLoS Genet"},{"key":"R124-20230918","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1007\/s00424-016-1816-7","article-title":"Human CNNM2 is not a Mg(2+) transporter per se","volume":"468","author":"Sponder","year":"2016","journal-title":"Pflugers Arch"},{"key":"R125-20230918","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1126\/science.1102521","article-title":"A cluster of metabolic defects caused by mutation in a mitochondrial tRNA","volume":"306","author":"Wilson","year":"2004","journal-title":"Science"},{"key":"R126-20230918","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ajhg.2010.12.010","article-title":"Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome","volume":"88","author":"Belostotsky","year":"2011","journal-title":"Am J Hum Genet"},{"key":"R127-20230918","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s00467-005-2092-5","article-title":"Bartter-like\u2019 phenotype in Kearns-Sayre syndrome","volume":"21","author":"Emma","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"R128-20230918","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1016\/S0022-3476(05)80648-1","article-title":"Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome","volume":"116","author":"Goto","year":"1990","journal-title":"J Pediatr"}],"container-title":["Current Opinion in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00008480-201704000-00011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T02:07:23Z","timestamp":1695002843000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00008480-201704000-00011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4]]},"references-count":128,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.1097\/mop.0000000000000450","relation":{},"ISSN":["1040-8703","1531-698X"],"issn-type":[{"value":"1040-8703","type":"print"},{"value":"1531-698X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4]]}}}