{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T02:03:18Z","timestamp":1788314598212,"version":"build-2803163510"},"reference-count":55,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,3,31]],"date-time":"2024-03-31T00:00:00Z","timestamp":1711843200000},"content-version":"am","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales d'Endocrinologie"],"published-print":{"date-parts":[[2023,4]]},"DOI":"10.1016\/j.ando.2022.11.005","type":"journal-article","created":{"date-parts":[[2023,1,10]],"date-time":"2023-01-10T11:49:22Z","timestamp":1673351362000},"page":"298-307","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Pathophysiologic approach in genetic hypokalemia: An update"],"prefix":"10.1016","volume":"84","author":[{"given":"Anne","family":"Blanchard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ando.2022.11.005_bib0280","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/nrneph.2010.175","article-title":"Pathophysiology and management of hypokalemia: a clinical perspective","volume":"7","author":"Unwin","year":"2011","journal-title":"Nat Rev Nephrol"},{"key":"10.1016\/j.ando.2022.11.005_bib0285","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.2215\/CJN.08580813","article-title":"Regulation of potassium homeostasis","volume":"10","author":"Palmer","year":"2015","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.ando.2022.11.005_bib0290","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1038\/ki.1991.321","article-title":"Adrenergic modulation of extrarenal potassium disposal in men with end-stage renal disease","volume":"40","author":"Allon","year":"1991","journal-title":"Kidney Int"},{"key":"10.1016\/j.ando.2022.11.005_bib0295","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.semnephrol.2013.04.004","article-title":"Extracellular potassium homeostasis: insights from hypokalemic periodic paralysis","volume":"33","author":"Cheng","year":"2013","journal-title":"Semin Nephrol"},{"key":"10.1016\/j.ando.2022.11.005_bib0300","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1056\/NEJMra1313341","article-title":"An integrated view of potassium homeostasis","volume":"373","author":"Gumz","year":"2015","journal-title":"New Engl J Med"},{"key":"10.1016\/j.ando.2022.11.005_bib0305","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1152\/physrev.2001.81.1.85","article-title":"Potassium transport in the mammalian collecting duct","volume":"81","author":"Muto","year":"2001","journal-title":"Physiol Rev"},{"key":"10.1016\/j.ando.2022.11.005_bib0310","first-page":"F1132","article-title":"ROMK inwardly rectifying ATP-sensitive K+ channel. II. Cloning and distribution of alternative forms","volume":"268","author":"Boim","year":"1995","journal-title":"Am J Physiol"},{"key":"10.1016\/j.ando.2022.11.005_bib0315","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1038\/ki.1987.54","article-title":"Potassium recycling","volume":"31","author":"Jamison","year":"1987","journal-title":"Kidney Int"},{"key":"10.1016\/j.ando.2022.11.005_bib0320","first-page":"F772","article-title":"Effects of sodium intake on steady-state potassium excretion","volume":"246","author":"Young","year":"1984","journal-title":"Am J Physiol"},{"key":"10.1016\/j.ando.2022.11.005_bib0325","first-page":"F239","article-title":"Differential regulation of ROMK expression in kidney cortex and medulla by aldosterone and potassium","volume":"275","author":"Wald","year":"1998","journal-title":"Am J Physiol"},{"key":"10.1016\/j.ando.2022.11.005_bib0330","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.bbrc.2016.10.127","article-title":"Potassium depletion stimulates Na-Cl cotransporter via phosphorylation and inactivation of the ubiquitin ligase Kelch-like 3","volume":"480","author":"Ishizawa","year":"2016","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.ando.2022.11.005_bib0335","doi-asserted-by":"crossref","first-page":"F216","DOI":"10.1152\/ajprenal.00232.2019","article-title":"WNK bodies cluster WNK4 and SPAK\/OSR1 to promote NCC activation in hypokalemia","volume":"318","author":"Thomson","year":"2020","journal-title":"Am J Physiol Renal Physiol"},{"key":"10.1016\/j.ando.2022.11.005_bib0340","first-page":"F314","article-title":"Chronic hypokalemia enhances expression of the H(+)-K(+)-ATPase alpha 2-subunit gene in renal medulla","volume":"271","author":"Ahn","year":"1996","journal-title":"Am J Physiol"},{"key":"10.1016\/j.ando.2022.11.005_bib0345","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1007\/s00467-021-05246-x","article-title":"Monogenic forms of low-renin hypertension: clinical and molecular insights","volume":"37","author":"Khandelwal","year":"2021","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ando.2022.11.005_bib0350","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/mus.26009","article-title":"Review of the diagnosis and treatment of periodic paralysis","volume":"57","author":"Statland","year":"2018","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.ando.2022.11.005_bib0355","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1212\/01.CON.0000440661.49298.c8","article-title":"Muscle channelopathies: the nondystrophic myotonias and periodic paralyses","volume":"19","author":"Statland","year":"2013","journal-title":"Continuum (Minneap Minn)"},{"key":"10.1016\/j.ando.2022.11.005_bib0360","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1093\/brain\/awh639","article-title":"The primary periodic paralyses: diagnosis, pathogenesis and treatment","volume":"129","author":"Venance","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.ando.2022.11.005_bib0365","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1681\/ASN.2012010046","article-title":"Mechanism of thyrotoxic periodic paralysis","volume":"23","author":"Lin","year":"2012","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ando.2022.11.005_bib0370","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1038\/nrendo.2011.58","article-title":"Novel etiopathophysiological aspects of thyrotoxic periodic paralysis","volume":"7","author":"Maciel","year":"2011","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.ando.2022.11.005_bib0375","first-page":"1109","article-title":"Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone","volume":"95","author":"Sutherland","year":"1966","journal-title":"CMAJ"},{"key":"10.1016\/j.ando.2022.11.005_bib0380","doi-asserted-by":"crossref","first-page":"2236","DOI":"10.1172\/JCI118279","article-title":"Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree","volume":"96","author":"Pascoe","year":"1995","journal-title":"J Clin Invest"},{"issue":"4","key":"10.1016\/j.ando.2022.11.005_bib0385","doi-asserted-by":"crossref","first-page":"409","DOI":"10.3390\/biomedicines9040409","article-title":"Update on genetics of primary aldosteronism","volume":"9","author":"Itcho","year":"2021","journal-title":"Biomedicines"},{"key":"10.1016\/j.ando.2022.11.005_bib0390","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1038\/s41574-020-0382-4","article-title":"Pathogenesis and treatment of primary aldosteronism","volume":"16","author":"Zennaro","year":"2020","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.ando.2022.11.005_bib0395","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.jpeds.2012.06.017","article-title":"A family with Liddle syndrome caused by a novel missense mutation in the PY motif of the beta-subunit of the epithelial sodium channel","volume":"162","author":"Gao","year":"2013","journal-title":"J Pediatr"},{"key":"10.1016\/j.ando.2022.11.005_bib0400","first-page":"199","article-title":"A familiar renal disorder simulating primary aldosteronism but with negligible aldosterone secretion","volume":"76","author":"Liddle","year":"1963","journal-title":"Trans Assoc Am Physicians"},{"key":"10.1016\/j.ando.2022.11.005_bib0405","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/0092-8674(94)90250-X","article-title":"Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel","volume":"79","author":"Shimkets","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.ando.2022.11.005_bib0410","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1111\/febs.13840","article-title":"ASIC and ENaC type sodium channels: conformational states and the structures of the ion selectivity filters","volume":"284","author":"Hanukoglu","year":"2016","journal-title":"Febs J"},{"key":"10.1016\/j.ando.2022.11.005_bib0415","doi-asserted-by":"crossref","first-page":"12790","DOI":"10.1073\/pnas.96.22.12790","article-title":"Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess","volume":"96","author":"New","year":"1999","journal-title":"Proc Natl Acad Sci U.S.A."},{"key":"10.1016\/j.ando.2022.11.005_bib0420","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1210\/jcem-49-5-757","article-title":"A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol","volume":"49","author":"Ulick","year":"1979","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2022.11.005_bib0425","doi-asserted-by":"crossref","first-page":"101368","DOI":"10.1016\/j.beem.2019.101368","article-title":"Primary aldosteronism: treatment of the disease, and new therapeutic approaches","volume":"34","author":"Funder","year":"2019","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.ando.2022.11.005_bib0430","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1038\/ng0895-394","article-title":"Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase","volume":"10","author":"Mune","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.ando.2022.11.005_bib0435","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/j.bbadis.2009.10.017","article-title":"The role of 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension","volume":"1802","author":"Ferrari","year":"2017","journal-title":"Biochimica Biophysica Acta"},{"key":"10.1016\/j.ando.2022.11.005_bib0440","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/S0889-8529(18)30100-2","article-title":"Steroid 11 beta-hydroxylase deficiency and related disorders","volume":"23","author":"White","year":"1994","journal-title":"Endocrinol Metab Clin North Am"},{"key":"10.1016\/j.ando.2022.11.005_bib0445","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1126\/science.289.5476.119","article-title":"Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy","volume":"289","author":"Geller","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.ando.2022.11.005_bib0450","doi-asserted-by":"crossref","first-page":"908655","DOI":"10.3389\/fped.2022.908655","article-title":"Genetic heterogeneity in Bartter syndrome: clinical and practical importance","volume":"10","author":"Florea","year":"2022","journal-title":"Front Pediatr"},{"key":"10.1016\/j.ando.2022.11.005_bib0455","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.kint.2016.09.046","article-title":"Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference","volume":"91","author":"Blanchard","year":"2017","journal-title":"Kidney Int"},{"key":"10.1016\/j.ando.2022.11.005_bib0460","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":"10.1016\/j.ando.2022.11.005_bib0465","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/ng1096-152","article-title":"Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK","volume":"14","author":"Simon","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.ando.2022.11.005_bib0470","doi-asserted-by":"crossref","first-page":"2540","DOI":"10.1681\/ASN.2016101057","article-title":"Clinical and genetic spectrum of Bartter syndrome type 3","volume":"28","author":"Seys","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ando.2022.11.005_bib0475","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":"10.1016\/j.ando.2022.11.005_bib0480","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1056\/NEJMoa032843","article-title":"Salt wasting and deafness resulting from mutations in two chloride channels","volume":"350","author":"Schlingmann","year":"2004","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ando.2022.11.005_bib0485","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1056\/NEJMoa1507629","article-title":"Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations","volume":"374","author":"Laghmani","year":"2016","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ando.2022.11.005_bib0490","doi-asserted-by":"crossref","first-page":"242","DOI":"10.2215\/CJN.05670517","article-title":"Prevalence of novel MAGED2 mutations in antenatal Bartter syndrome","volume":"13","author":"Legrand","year":"2018","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.ando.2022.11.005_bib0495","doi-asserted-by":"crossref","first-page":"2259","DOI":"10.1097\/01.ASN.0000025781.16723.68","article-title":"Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome","volume":"13","author":"Vargas-Poussou","year":"2002","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.ando.2022.11.005_bib0500","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":"10.1016\/j.ando.2022.11.005_bib0505","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":"10.1016\/j.ando.2022.11.005_bib0510","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":"10.1016\/j.ando.2022.11.005_bib0515","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1056\/NEJM199701093360205","article-title":"Proton-pump inhibition of gastric chloride secretion in congenital chloridorrhea","volume":"336","author":"Aichbichler","year":"1997","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ando.2022.11.005_bib0520","doi-asserted-by":"crossref","DOI":"10.1016\/j.jpeds.2019.07.039","article-title":"Clinical features, molecular genetics, and long-term outcome in congenital chloride diarrhea: a nationwide study in Japan","volume":"214","author":"Konishi","year":"2019","journal-title":"J Pediatr"},{"key":"10.1016\/j.ando.2022.11.005_bib0525","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/s41390-020-01251-2","article-title":"Congenital chloride diarrhea clinical features and management: a systematic review","volume":"90","author":"Di Meglio","year":"2020","journal-title":"Pediatr Res"},{"key":"10.1016\/j.ando.2022.11.005_bib0530","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s10620-010-1491-z","article-title":"Proton pump inhibitor treatment for congenital chloride diarrhea","volume":"56","author":"Pieroni","year":"2011","journal-title":"Dig Dis Sci"},{"key":"10.1016\/j.ando.2022.11.005_bib0535","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1007\/s12325-020-01587-5","article-title":"Renal tubular acidosis and management strategies: a narrative review","volume":"38","author":"Palmer","year":"2021","journal-title":"Adv Ther"},{"key":"10.1016\/j.ando.2022.11.005_bib0540","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s40620-017-0447-1","article-title":"Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis","volume":"31","author":"Mohebbi","year":"2017","journal-title":"J Nephrol"},{"key":"10.1016\/j.ando.2022.11.005_bib0545","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1007\/s00467-003-1112-6","article-title":"A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis","volume":"18","author":"Sritippayawan","year":"2003","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ando.2022.11.005_bib0550","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1681\/ASN.2005121305","article-title":"Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene","volume":"17","author":"Vargas-Poussou","year":"2006","journal-title":"J Am Soc Nephrol"}],"container-title":["Annales d'Endocrinologie"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426623000033?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003426623000033?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T22:54:20Z","timestamp":1757717660000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003426623000033"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4]]},"references-count":55,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["S0003426623000033"],"URL":"https:\/\/doi.org\/10.1016\/j.ando.2022.11.005","relation":{},"ISSN":["0003-4266"],"issn-type":[{"value":"0003-4266","type":"print"}],"subject":[],"published":{"date-parts":[[2023,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pathophysiologic approach in genetic hypokalemia: An update","name":"articletitle","label":"Article Title"},{"value":"Annales d'Endocrinologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ando.2022.11.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}