{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T20:02:00Z","timestamp":1791835320525,"version":"4.3.4"},"reference-count":70,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T00:00:00Z","timestamp":1661126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"},{"start":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T00:00:00Z","timestamp":1661126400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T00:00:00Z","timestamp":1661126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82174115"],"award-info":[{"award-number":["82174115"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82174115"],"award-info":[{"award-number":["82174115"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Renal tubules play an important role in maintaining water, electrolyte, and acid\u2013base balance. Renal tubule dysfunction can cause electrolyte disorders and acid\u2013base imbalance. Clinically, hypokalemic renal tubular disease is the most common tubule disorder. With the development of molecular genetics and gene sequencing technology, hereditary renal tubular diseases have attracted attention, and an increasing number of pathogenic genes related to renal tubular diseases have been discovered and reported. Inherited renal tubular diseases mainly occur due to mutations in genes encoding various specific transporters or ion channels expressed on the tubular epithelial membrane, leading to dysfunctional renal tubular reabsorption, secretion, and excretion. An in-depth understanding of the molecular genetic basis of hereditary renal tubular disease will help to understand the physiological function of renal tubules, the mechanism by which the kidney maintains water, electrolyte, and acid\u2013base balance, and the relationship between the kidney and other systems in the body. Meanwhile, understanding these diseases also improves our understanding of the pathogenesis of hypokalemia, alkalosis and other related diseases and ultimately promotes accurate diagnostics and effective disease treatment. The present review summarizes the most common hereditary renal tubular diseases (Bartter syndrome, Gitelman syndrome, EAST syndrome and Liddle syndrome) characterized by hypokalemia and alkalosis. Further detailed explanations are provided for pathogenic genes and functional proteins, clinical manifestations, intrinsic relationship between genotype and clinical phenotype, diagnostic clues, differential diagnosis, and treatment strategies for these diseases.<\/jats:p>","DOI":"10.1007\/s40620-022-01428-4","type":"journal-article","created":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T09:05:36Z","timestamp":1661159136000},"page":"575-591","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis"],"prefix":"10.1093","volume":"36","author":[{"given":"Wenkai","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Nephrology, First Medical Center of Chinese PLA General Hospital, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, 100853, Beijing, People\u2019s Republic of China 1"},{"name":"School of Medicine, Nankai University, 300071, Tianjin, People\u2019s Republic of China 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengcheng","family":"Ji","sequence":"additional","affiliation":[{"name":"Department of Nephrology, First Medical Center of Chinese PLA General Hospital, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, 100853, Beijing, People\u2019s Republic of China 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuansheng","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Nephrology, First Medical Center of Chinese PLA General Hospital, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, 100853, Beijing, People\u2019s Republic of China 1"},{"name":"School of Medicine, Nankai University, 300071, Tianjin, People\u2019s Republic of China 2"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,8,22]]},"reference":[{"issue":"4","key":"2026012110165749800_CR1","doi-asserted-by":"publisher","first-page":"620","DOI":"10.2215\/CJN.14481119 32238367","article-title":"Inherited tubulopathies of the kidney: insights from genetics","volume":"16","author":"Downie","year":"2021","journal-title":"Clin J Am Soc Nephrol"},{"issue":"11","key":"2026012110165749800_CR2","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1007\/s004670100671 11685602","article-title":"Molecular pathophysiology of tubular transport disorders","volume":"16","author":"Zelikovic","year":"2001","journal-title":"Pediatr Nephrol"},{"key":"2026012110165749800_CR3","doi-asserted-by":"publisher","first-page":"291","DOI":"10.2147\/IJNRD.S155397 30519073","article-title":"Bartter syndrome: causes, diagnosis, and treatment","volume":"11","author":"Cunha","year":"2018","journal-title":"Int J Nephrol Renovasc Dis"},{"issue":"1","key":"2026012110165749800_CR4","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1046\/j.1523-1755.2002.00128.x 11786121","article-title":"Reduced content of alpha subunit of Gq protein content in monocytes of Bartter and Gitelman syndromes: relationship with vascular hyporeactivity","volume":"61","author":"Cal\u00f2","year":"2002","journal-title":"Kidney Int"},{"issue":"21","key":"2026012110165749800_CR5","doi-asserted-by":"publisher","first-page":"11414","DOI":"10.3390\/ijms222111414 34768847","article-title":"Molecular basis, diagnostic challenges and therapeutic approaches of Bartter and Gitelman syndromes: a primer for Clinicians","volume":"22","author":"Nunez-Gonzalez","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"2","key":"2026012110165749800_CR6","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1016\/j.kint.2020.10.035 33509356","article-title":"Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders","volume":"99","author":"Konrad","year":"2021","journal-title":"Kidney Int"},{"issue":"13","key":"2026012110165749800_CR7","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1056\/NEJMoa032843 15044642","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"},{"issue":"3","key":"2026012110165749800_CR8","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1007\/BF00849259 3153322","article-title":"Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders","volume":"1","author":"Seyberth","year":"1987","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"2026012110165749800_CR9","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1097\/mnh.0000000000000346 28598867","article-title":"Pathophysiology of antenatal Bartter's syndrome","volume":"26","author":"K\u00f6mhoff","year":"2017","journal-title":"Curr Opin Nephrol Hypertens"},{"issue":"2","key":"2026012110165749800_CR10","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1038\/ng0696-183 8640224","article-title":"Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2","volume":"13","author":"Simon","year":"1996","journal-title":"Nat Genet"},{"issue":"1","key":"2026012110165749800_CR11","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/s00424-013-1370-5 24097229","article-title":"Physiology and pathophysiology of SLC12A1\/2 transporters","volume":"466","author":"Markadieu","year":"2014","journal-title":"Pflugers Arch"},{"issue":"4","key":"2026012110165749800_CR12","doi-asserted-by":"publisher","first-page":"437","DOI":"10.32641\/rchped.v90i4.932","article-title":"Bartter syndrome: An infrequent tubulopathy of prenatal onset","volume":"90","author":"de la G\u00f3mez","year":"2019","journal-title":"Rev Chil Pediatr"},{"issue":"6","key":"2026012110165749800_CR13","doi-asserted-by":"publisher","first-page":"1419","DOI":"10.1097\/01.asn.0000064948.39199.a0 12761241","article-title":"Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters","volume":"14","author":"Starremans","year":"2003","journal-title":"J Am Soc Nephrol"},{"issue":"2","key":"2026012110165749800_CR14","doi-asserted-by":"publisher","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"},{"issue":"4","key":"2026012110165749800_CR15","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1093\/qjmed\/93.4.207 10787448","article-title":"Bartter syndrome: an overview","volume":"93","author":"Amirlak","year":"2000","journal-title":"QJM"},{"issue":"2","key":"2026012110165749800_CR16","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/ng1096-152 8841184","article-title":"Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel","volume":"14","author":"Simon","year":"1996","journal-title":"ROMK Nat Genet"},{"issue":"13","key":"2026012110165749800_CR17","doi-asserted-by":"publisher","first-page":"1281","DOI":"10.1056\/NEJMp048026 15044637","article-title":"Reabsorption of sodium chloride\u2013lessons from the chloride channels","volume":"350","author":"Bichet","year":"2004","journal-title":"N Engl J Med"},{"issue":"4","key":"2026012110165749800_CR18","doi-asserted-by":"publisher","first-page":"F849","DOI":"10.1152\/ajprenal.00181 19458126","article-title":"A comprehensive guide to the ROMK potassium channel: form and function in health and disease","volume":"297","author":"Welling","year":"2009","journal-title":"Am J Physiol Renal Physiol"},{"issue":"3","key":"2026012110165749800_CR19","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1067\/mpd.2003.100 12640382","article-title":"Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome","volume":"142","author":"Finer","year":"2003","journal-title":"J Pediatr"},{"issue":"2","key":"2026012110165749800_CR20","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1038\/ng1097-171 9326936","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"},{"issue":"8","key":"2026012110165749800_CR21","doi-asserted-by":"publisher","first-page":"2540","DOI":"10.1681\/ASN.2016101057 28381550","article-title":"Clinical and Genetic Spectrum of Bartter Syndrome Type 3","volume":"28","author":"Seys","year":"2017","journal-title":"J Am Soc Nephrol"},{"issue":"60","key":"2026012110165749800_CR22","doi-asserted-by":"publisher","first-page":"101614","DOI":"10.18632\/oncotarget.21355 29254190","article-title":"Mutation spectrum of Chinese patients with Bartter syndrome","volume":"8","author":"Han","year":"2017","journal-title":"Oncotarget"},{"issue":"6869","key":"2026012110165749800_CR23","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1038\/415287a 11796999","article-title":"X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity","volume":"415","author":"Dutzler","year":"2002","journal-title":"Nature"},{"issue":"8","key":"2026012110165749800_CR24","doi-asserted-by":"publisher","first-page":"1449","DOI":"10.1681\/asn.V1181449 10906158","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"},{"issue":"6863","key":"2026012110165749800_CR25","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/35107099 11734858","article-title":"Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion","volume":"414","author":"Est\u00e9vez","year":"2001","journal-title":"Nature"},{"issue":"3","key":"2026012110165749800_CR26","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng752 11687798","article-title":"Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure","volume":"29","author":"Birkenh\u00e4ger","year":"2001","journal-title":"Nat Genet"},{"issue":"3","key":"2026012110165749800_CR27","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1136\/jmg.2007.052944 18310267","article-title":"Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness","volume":"45","author":"Nozu","year":"2008","journal-title":"J Med Genet"},{"issue":"19","key":"2026012110165749800_CR28","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.1056\/NEJMoa1507629 27120771","article-title":"Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations","volume":"374","author":"Laghmani","year":"2016","journal-title":"N Engl J Med"},{"issue":"9","key":"2026012110165749800_CR29","doi-asserted-by":"publisher","first-page":"2259","DOI":"10.1097\/01.asn.0000025781.16723.68 12191970","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"},{"issue":"4","key":"2026012110165749800_CR30","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1097\/mnh.0000000000000422 29677005","article-title":"MAGED2: a novel form of antenatal Bartter's syndrome","volume":"27","author":"K\u00f6mhoff","year":"2018","journal-title":"Curr Opin Nephrol Hypertens"},{"issue":"4","key":"2026012110165749800_CR31","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1111\/boc.201400069 25631355","article-title":"NKCC2 activity is inhibited by the Bartter's syndrome type 5 gain-of-function CaR-A843E mutant in renal cells","volume":"107","author":"Carmosino","year":"2015","journal-title":"Biol Cell"},{"issue":"10","key":"2026012110165749800_CR32","doi-asserted-by":"publisher","first-page":"1815","DOI":"10.1007\/s00467-019-04371-y 31664557","article-title":"Bartter and Gitelman syndromes: questions of class","volume":"35","author":"Besouw","year":"2020","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"2026012110165749800_CR33","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/ng0196-24 8528245","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"},{"issue":"3","key":"2026012110165749800_CR34","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/1750-1172-3-22","article-title":"Gitelman syndrome","volume":"2008","author":"Knoers","year":"2008","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"2026012110165749800_CR35","doi-asserted-by":"publisher","first-page":"1170","DOI":"10.1093\/ndt\/gfn619 19033254","article-title":"Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure","volume":"24","author":"Hsu","year":"2009","journal-title":"Nephrol Dial Transplant"},{"issue":"1","key":"2026012110165749800_CR36","doi-asserted-by":"publisher","first-page":"16099","DOI":"10.1038\/s41598-021-95521-6 34373523","article-title":"Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome database","volume":"11","author":"Kondo","year":"2021","journal-title":"Sci Rep"},{"issue":"5","key":"2026012110165749800_CR37","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1291\/hypres.27.327 15198479","article-title":"A high prevalence of. Gitelman's syndrome mutations in Japanese","volume":"27","author":"Tago","year":"2004","journal-title":"Hypertens Res"},{"issue":"5","key":"2026012110165749800_CR38","doi-asserted-by":"publisher","first-page":"2500","DOI":"10.1210\/jc.2004-1905 15687331","article-title":"Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome","volume":"90","author":"Lin","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2026012110165749800_CR39","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1006\/geno.1996.0388 8812482","article-title":"Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)","volume":"35","author":"Mastroianni","year":"1996","journal-title":"Genomics"},{"key":"2026012110165749800_CR40","doi-asserted-by":"publisher","DOI":"10.4238\/gmr.15027859 27808375","article-title":"Clinical and genetic analyses of Chinese patients with Gitelman syndrome","author":"Miao","year":"2016","journal-title":"Genet Mol Res"},{"issue":"1","key":"2026012110165749800_CR41","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.kint.2016.09.046 28003083","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"},{"issue":"5","key":"2026012110165749800_CR42","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1038\/ng.118 18391953","article-title":"Rare independent mutations in renal salt handling genes. Contribute to blood pressure variation","volume":"40","author":"Ji","year":"2008","journal-title":"Nat Genet"},{"issue":"3","key":"2026012110165749800_CR43","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1684\/mrh.2015.0388 26446763","article-title":"The art of magnesium transport","volume":"28","author":"de Baaij","year":"2015","journal-title":"Magnes Res"},{"issue":"6","key":"2026012110165749800_CR44","doi-asserted-by":"publisher","first-page":"1651","DOI":"10.1172\/JCI24134 15902302","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"},{"issue":"12","key":"2026012110165749800_CR45","doi-asserted-by":"publisher","first-page":"986","DOI":"10.3390\/genes10120986 31795491","article-title":"The molecular genetics of gordon syndrome","volume":"10","author":"Mabillard","year":"2019","journal-title":"Genes (Basel)"},{"issue":"5532","key":"2026012110165749800_CR46","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1126\/science.1062844 11498583","article-title":"Human hypertension caused by mutations in WNK kinases","volume":"293","author":"Wilson","year":"2001","journal-title":"Science"},{"issue":"3","key":"2026012110165749800_CR47","doi-asserted-by":"publisher","first-page":"S21","DOI":"10.29271\/jcpsp.2018.03.S21 29482694","article-title":"Pseudohypoaldosteronism type II: a young girl presented with hypertension, hyperkalemia and metabolic acidosis","volume":"28","author":"Sethar","year":"2018","journal-title":"J Coll Physicians Surg Pak"},{"issue":"4","key":"2026012110165749800_CR48","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1111\/imj.1970.19.4.287 5490655","article-title":"Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction","volume":"19","author":"Gordon","year":"1970","journal-title":"Australas Ann Med"},{"issue":"1","key":"2026012110165749800_CR49","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1111\/cge.13374 29722015","article-title":"EAST\/SeSAME syndrome: review of the literature and introduction of four new Latvian patients","volume":"95","author":"Celmina","year":"2019","journal-title":"Clin Genet"},{"issue":"1","key":"2026012110165749800_CR50","doi-asserted-by":"publisher","DOI":"10.1080\/21675511.2016.1195043 27500072","article-title":"EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10","volume":"4","author":"Abdelhadi","year":"2016","journal-title":"Rare Dis"},{"issue":"19","key":"2026012110165749800_CR51","doi-asserted-by":"publisher","first-page":"1960","DOI":"10.1056\/NEJMoa0810276 19420365","article-title":"Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations","volume":"360","author":"Bockenhauer","year":"2009","journal-title":"N Engl J Med"},{"issue":"14","key":"2026012110165749800_CR52","doi-asserted-by":"publisher","first-page":"5842","DOI":"10.1073\/pnas.0901749106 19289823","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 USA"},{"issue":"3","key":"2026012110165749800_CR53","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1056\/NEJM199401203300305 8264740","article-title":"Brief report: Liddle's syndrome revisited\u2013a disorder of sodium reabsorption in the distal tubule","volume":"330","author":"Botero-Velez","year":"1994","journal-title":"N Engl J Med"},{"issue":"3","key":"2026012110165749800_CR54","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1097\/hjh.0000000000001556 28915228","article-title":"Analysis of the genes involved in Mendelian forms of low-renin hypertension in Chinese early-onset hypertensive patients","volume":"36","author":"Liu","year":"2018","journal-title":"J Hypertens"},{"key":"2026012110165749800_CR55","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/j.cca.2014.05.015 24882431","article-title":"Molecular genetics of Liddle's syndrome","volume":"436","author":"Yang","year":"2014","journal-title":"Clin Chim Acta"},{"issue":"4","key":"2026012110165749800_CR56","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1053\/j.ajkd.2014.04.027 24927897","article-title":"Biopsy-proven acute interstitial nephritis, 1993\u20132011: a case series","volume":"64","author":"Muriithi","year":"2014","journal-title":"Am J Kidney Dis"},{"issue":"8","key":"2026012110165749800_CR57","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1093\/ndt\/gfv042 25817222","article-title":"Kidney biopsy findings in primary Sjogren syndrome","volume":"30","author":"Kidder","year":"2015","journal-title":"Nephrol Dial Transplant"},{"issue":"4","key":"2026012110165749800_CR58","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1097\/MNH.0000000000000725 34027905","article-title":"Cystic fibrosis in the kidney: new lessons from impaired renal HCO3-excretion","volume":"30","author":"Berg","year":"2021","journal-title":"Curr Opin Nephrol Hypertens"},{"issue":"4","key":"2026012110165749800_CR59","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1016\/j.jmoldx.2016.02.007 27157324","article-title":"The impact on genetic testing of mutational patterns of CFTR gene in different clinical macrocategories of cystic fibrosis","volume":"18","author":"Lucarelli","year":"2016","journal-title":"J Mol Diagn"},{"issue":"5","key":"2026012110165749800_CR60","doi-asserted-by":"publisher","first-page":"1889","DOI":"10.1210\/jc.2015-4061 26934393","article-title":"The management of primary aldosteronism: case detection, diagnosis, and treatment: an endocrine society clinical practice guideline","volume":"101","author":"Funder","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2026012110165749800_CR61","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1152\/advan.00121.2016 27756725","article-title":"Physiology and pathophysiology of potassium homeostasis","volume":"40","author":"Palmer","year":"2016","journal-title":"Adv Physiol Educ"},{"issue":"5","key":"2026012110165749800_CR62","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1053\/j.ajkd.2019.03.427 31227226","article-title":"Physiology and pathophysiology of potassium homeostasis: core curriculum 2019","volume":"74","author":"Palmer","year":"2019","journal-title":"Am J Kidney Dis"},{"issue":"2","key":"2026012110165749800_CR63","doi-asserted-by":"publisher","first-page":"306","DOI":"10.2215\/cjn.10330818 30626576","article-title":"The use of selected urine chemistries in the diagnosis of kidney disorders","volume":"14","author":"Palmer","year":"2019","journal-title":"Clin J Am Soc Nephrol"},{"issue":"10059","key":"2026012110165749800_CR64","doi-asserted-by":"publisher","first-page":"2519","DOI":"10.1016\/s0140-6736(16)00576-6 27140670","article-title":"Cystic fibrosis","volume":"388","author":"Elborn","year":"2016","journal-title":"Lancet"},{"issue":"3","key":"2026012110165749800_CR65","doi-asserted-by":"publisher","first-page":"E103","DOI":"10.1002\/ppul.22918 24535988","article-title":"Diagnosis of cystic fibrosis in the kindred of an infant with CFTR-related metabolic syndrome: importance of follow-up that includes monitoring sweat chloride concentrations over time","volume":"49","author":"Williams","year":"2014","journal-title":"Pediatr Pulmonol"},{"issue":"1","key":"2026012110165749800_CR66","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1007\/s00431-007-0413-3 17323076","article-title":"An epidemic of pseudo-Bartter syndrome in cystic fibrosis patients","volume":"167","author":"Kose","year":"2008","journal-title":"Eur J Pediatr"},{"issue":"3","key":"2026012110165749800_CR67","doi-asserted-by":"publisher","first-page":"278","DOI":"10.2174\/092986708783497247 18333314","article-title":"Nimesulide is a selective COX-2 inhibitory, atypical non-steroidal anti-inflammatory drug","volume":"15","author":"Suleyman","year":"2008","journal-title":"Curr Med Chem"},{"issue":"2","key":"2026012110165749800_CR68","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1053\/j.ackd.2006.01.014 16580616","article-title":"Gitelman syndrome","volume":"13","author":"Knoers","year":"2006","journal-title":"Adv Chronic Kidney Dis"},{"issue":"5","key":"2026012110165749800_CR69","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1097\/00045391-200109000-00008 11550076","article-title":"Bioavailability and pharmacokinetics of magnesium after administration of magnesium salts to humans","volume":"8","author":"Ranade","year":"2001","journal-title":"Am J Ther"},{"issue":"2","key":"2026012110165749800_CR70","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1080\/10641963.2017.1334799 28718682","article-title":"Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome","volume":"40","author":"Yang","year":"2018","journal-title":"Clin Exp Hypertens"}],"container-title":["Journal of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40620-022-01428-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s40620-022-01428-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/joneph\/article-pdf\/36\/2\/575\/66514277\/joneph_36_2_1428.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40620-022-01428-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/academic.oup.com\/joneph\/article-pdf\/36\/2\/575\/66514277\/joneph_36_2_1428.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T15:17:07Z","timestamp":1769008627000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/joneph\/article\/36\/2\/575\/8304321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,22]]},"references-count":70,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,8,22]]},"published-print":{"date-parts":[[2023,3,1]]}},"URL":"https:\/\/doi.org\/10.1007\/s40620-022-01428-4","relation":{},"ISSN":["1121-8428","1724-6059"],"issn-type":[{"value":"1121-8428","type":"print"},{"value":"1724-6059","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,3,1]]},"published":{"date-parts":[[2022,8,22]]},"assertion":[{"value":"2 May 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 July 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 August 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no conflicts of interest to declare that are relevant to the content of this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"For this type of study (i.e., review article) ethical approval is not required.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical statement"}}]}}