{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T18:20:36Z","timestamp":1790187636410,"version":"4.1.0"},"reference-count":80,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T00:00:00Z","timestamp":1694390400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background and Objectives: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. Materials and Methods: Case reports\/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. Results: Overall, 118 patients, 48 case reports, and 9 case series (n = 70) were identified. Out of these, the majority of patients were male (n = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III (n = 59), followed by Type II (n = 19), Type I (n = 14), Type IV (n = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. Conclusions: Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.<\/jats:p>","DOI":"10.3390\/medicina59091638","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T09:00:52Z","timestamp":1694422852000},"page":"1638","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Bartter Syndrome: A Systematic Review of Case Reports and Case Series"],"prefix":"10.3390","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5051-9319","authenticated-orcid":false,"given":"Rakhtan K.","family":"Qasba","sequence":"first","affiliation":[{"name":"Green Life Medical College and Hospital, Dhaka 1205, Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Carolina Flumignan","family":"Bucharles","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Health Sciences, Universidade Positivo, R. Professor Pedro Viriato Parigot de Souza, Curitiba 5300, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Victoria Ferreira","family":"Piccoli","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Health Sciences, Universidade Positivo, R. Professor Pedro Viriato Parigot de Souza, Curitiba 5300, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2301-8441","authenticated-orcid":false,"given":"Pranjal","family":"Sharma","sequence":"additional","affiliation":[{"name":"MercyOne Hospital, Clinton, IA 52732, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2626-8219","authenticated-orcid":false,"given":"Akshat","family":"Banga","sequence":"additional","affiliation":[{"name":"Sawai Man Singh Medical College, Jaipur 302004, Rajasthan, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6723-5865","authenticated-orcid":false,"given":"Balakrishnan","family":"Kamaraj","sequence":"additional","affiliation":[{"name":"Madurai Medical College, Madurai 625020, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faisal A.","family":"Nawaz","sequence":"additional","affiliation":[{"name":"Emirates Health Services, Al Amal Psychiatric Hospital, Dubai 345055, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harshadayani Jagadish","family":"Kumar","sequence":"additional","affiliation":[{"name":"Sapthagiri Institute of Medical Sciences, Banglore 560090, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahika Afrin","family":"Happy","sequence":"additional","affiliation":[{"name":"Green Life Medical College and Hospital, Dhaka 1205, Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6637-596X","authenticated-orcid":false,"given":"Ruman K.","family":"Qasba","sequence":"additional","affiliation":[{"name":"Sher-I-Kashmir Institute of Medical Sciences, Srinagar 190001, Jammu and Kashmir, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gowthami Sai","family":"Kogilathota Jagirdhar","sequence":"additional","affiliation":[{"name":"Department of Medicine, Saint Michaels Medical Center, Newark, NJ 07102, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6554-7619","authenticated-orcid":false,"given":"Mohammad Yasir","family":"Essar","sequence":"additional","affiliation":[{"name":"Department of Global Health, McMaster University, Hamilton, ON L8S 4L8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0392-1708","authenticated-orcid":false,"given":"Piyush","family":"Garg","sequence":"additional","affiliation":[{"name":"JJM Medical College, Davanagere 577004, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiva Teja","family":"Reddy","sequence":"additional","affiliation":[{"name":"Gandhi Medical College, Secunderabad 500025, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaanthi","family":"Rama","sequence":"additional","affiliation":[{"name":"Gandhi Medical College, Secunderabad 500025, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7105-4266","authenticated-orcid":false,"given":"Salim","family":"Surani","sequence":"additional","affiliation":[{"name":"Department of Medicine & Pharmacology, Texas A&M University, College Station, TX 79016, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4383-3411","authenticated-orcid":false,"given":"Rahul","family":"Kashyap","sequence":"additional","affiliation":[{"name":"Critical Care Medicine, Department of Anesthesiology, Mayo Clinic, Rochester, MN 55905, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,11]]},"reference":[{"key":"ref_1","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","volume":"33","author":"Bartter","year":"1962","journal-title":"Am. J. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"291","DOI":"10.2147\/IJNRD.S155397","article-title":"Bartter syndrome: Causes, diagnosis, and treatment","volume":"11","author":"Cunha","year":"2018","journal-title":"IJNRD"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1067\/mpd.2003.100","article-title":"Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome","volume":"142","author":"Finer","year":"2003","journal-title":"J. Pediatr."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1093\/ndt\/gfn689","article-title":"Phenotype\u2013genotype correlation in antenatal and neonatal variants of Bartter syndrome","volume":"24","author":"Brochard","year":"2008","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0002-9343(01)01086-5","article-title":"Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies","volume":"112","author":"Peters","year":"2002","journal-title":"Am. J. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.kint.2020.10.035","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."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"n71","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 statement: An updated guideline for reporting systematic reviews","volume":"29","author":"Page","year":"2021","journal-title":"BMJ"},{"key":"ref_8","unstructured":"Zotero (2023, September 01). Your Personal Research Assistant. Available online: https:\/\/www.zotero.org\/."},{"key":"ref_9","first-page":"2127","article-title":"Methodological quality of case series studies: An introduction to the JBI critical appraisal tool","volume":"18","author":"Munn","year":"2020","journal-title":"JBI Evid. Synth."},{"key":"ref_10","first-page":"bcr-2017","article-title":"Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate","volume":"2017","author":"Abdelgadir","year":"2017","journal-title":"BMJ Case Rep."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1186\/1752-1947-7-283","article-title":"Classic Bartter syndrome complicated with profound growth hormone deficiency: A case report","volume":"7","author":"Adachi","year":"2013","journal-title":"J. Med. Case Rep."},{"key":"ref_12","unstructured":"Afzal, M., Khan, E.A., Khan, W.A., Anwar, V., Yaqoob, A., Rafiq, S., and Azam, S. (2014). Antenatal Bartter syndrome. J. Coll. Physicians Surg. Pak., 24."},{"key":"ref_13","first-page":"210","article-title":"Unusual case of failure to thrive: Type III Bartter syndrome","volume":"14","author":"Agrawal","year":"2016","journal-title":"J. Nepal Health Res. Counc."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"47","DOI":"10.4103\/0971-4065.107200","article-title":"Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis","volume":"23","author":"Akuma","year":"2013","journal-title":"Indian J. Nephrol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2050313X211019789","DOI":"10.1177\/2050313X211019789","article-title":"Correcting hypokalaemia in a paediatric patient with Bartter syndrome through oral dose of potassium chloride intravenous solution","volume":"9","author":"Alasfour","year":"2021","journal-title":"SAGE Open Med. Case Rep."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"389","DOI":"10.2147\/IJGM.S66550","article-title":"An infant with poor weight gain and hypochloremic metabolic alkalosis: A case report","volume":"7","author":"Alhammadi","year":"2014","journal-title":"Int. J. Gen. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"146","DOI":"10.5414\/CN107606","article-title":"Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome","volume":"81","author":"Chiang","year":"2014","journal-title":"Clin. Nephrol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"S103","DOI":"10.3345\/kjp.2016.59.11.S103","article-title":"A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome","volume":"59","author":"Cho","year":"2016","journal-title":"Korean J. Pediatr."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.jfma.2015.03.017","article-title":"Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy","volume":"115","author":"Chuang","year":"2015","journal-title":"J. Formos. Med. Assoc."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1590\/1806-93042021000200018","article-title":"Severe polyhydramnios as neonatal presentation of Bartter\u2019s syndrome type IV","volume":"21","author":"Coroado","year":"2021","journal-title":"Rev. Bras. Saude Mater. Infant."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Cruz, A.J., and Castro, A. (2013). Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation. BMJ Case Rep., 2013.","DOI":"10.1136\/bcr-2012-007929"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/j.1442-200X.2012.03716.x","article-title":"Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II","volume":"55","author":"Fretzayas","year":"2013","journal-title":"Pediatr. Int."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"0300060520966494","DOI":"10.1177\/0300060520966494","article-title":"A highly unusual case of osmotic demyelination syndrome and extrapontine myelinolysis in a 3-month-old infant with Bartter syndrome","volume":"48","author":"Gargano","year":"2020","journal-title":"J. Int. Med. Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1093\/ckj\/sfx033","article-title":"Late-onset Bartter syndrome type II","volume":"10","author":"Gollasch","year":"2017","journal-title":"Clin. Kidney J."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1515\/jpem-2014-0188","article-title":"Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: A case report and review","volume":"28","author":"Gross","year":"2015","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.4103\/1319-2442.215121","article-title":"Neonatal bartter syndrome in an extremely low birth weight baby","volume":"28","author":"Hegde","year":"2017","journal-title":"Saudi J. Kidney Dis. Transplant."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1590\/S1679-45082015RC3013","article-title":"Adult presentation of Bartter syndrome type IV with erythrocytosis","volume":"13","author":"Heilberg","year":"2015","journal-title":"Einstein"},{"key":"ref_28","unstructured":"Huang, L., Luiken, G.P.M., Van Riemsdijk, I.C., Petrij, F., Zandbergen, A.A.M., and Dees, A. (2014). Nephrocalcinosis as adult presentation of Bartter syndrome type II. Neth. J. Med., 72."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"e235349","DOI":"10.1136\/bcr-2020-235349","article-title":"Type-5 Bartter syndrome presenting with metabolic seizure in adulthood","volume":"14","author":"Hussain","year":"2021","journal-title":"BMJ Case Rep."},{"key":"ref_30","first-page":"000764","article-title":"Osteomalacia in a Case of Adult-Onset Bartter Syndrome","volume":"5","author":"Khan","year":"2018","journal-title":"Eur. J. Case Rep. Intern. Med."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1007\/s13730-020-00464-y","article-title":"Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel","volume":"9","author":"Khandelwal","year":"2020","journal-title":"CEN Case Rep."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"e233872","DOI":"10.1136\/bcr-2019-233872","article-title":"Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy","volume":"13","author":"Le","year":"2020","journal-title":"BMJ Case Rep."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2196","DOI":"10.1210\/jc.2016-1211","article-title":"Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter with Neonatal Primary Hyperparathyroidism","volume":"101","author":"Li","year":"2016","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.injms.2015.06.004","article-title":"Classical Bartter syndrome\u2014A case report","volume":"6","author":"Mali","year":"2015","journal-title":"Indian J. Med. Spec."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"e244685","DOI":"10.1136\/bcr-2021-244685","article-title":"Antenatal Bartter syndrome: A new compound heterozygous mutation in exon 2 of KCNJ1 gene","volume":"14","author":"Mani","year":"2021","journal-title":"BMJ Case Rep."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1055\/s-0032-1329682","article-title":"Nephrocalcinosis and Placental Findings in Neonatal Bartter Syndrome","volume":"3","author":"Shinno","year":"2012","journal-title":"Am. J. Perinatol. Rep."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Mou, L., and Wu, F. (2021). Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree. Genes, 12.","DOI":"10.3390\/genes12030369"},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Nam, G., Cho, A., and Park, M.-H. (2021). A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome. Medicina, 57.","DOI":"10.3390\/medicina57030272"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1111\/ped.12999","article-title":"Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association","volume":"58","author":"Tepeli","year":"2016","journal-title":"Pediatr. Int."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"E6","DOI":"10.1176\/appi.neuropsych.13060129","article-title":"Mania-Like Symptoms in a Patient with Bartter Syndrome","volume":"26","author":"Soyoral","year":"2014","journal-title":"J. Neuropsychiatry"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"363","DOI":"10.5414\/CN107687","article-title":"Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene","volume":"81","year":"2014","journal-title":"Clin. Nephrol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/S0140-6736(16)00087-8","article-title":"Renal apnoea: Extreme disturbance of homoeostasis in a child with Bartter syndrome type IV","volume":"388","author":"Plumb","year":"2016","journal-title":"Lancet"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"274","DOI":"10.3109\/01443615.2013.851658","article-title":"Severe early onset hydramnios in a singleton pregnancy due to antenatal Bartter syndrome","volume":"34","author":"Preshaw","year":"2014","journal-title":"J. Obstet. Gynaecol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1002\/ccr3.471","article-title":"Fetal urine biochemistry in antenatal Bartter syndrome: A case report","volume":"4","author":"Rachid","year":"2016","journal-title":"Clin. Case Rep."},{"key":"ref_45","first-page":"737","article-title":"Anaesthetic Management for Hiatal Hernia Repair in a Child with Bartter\u2019s Syndrome: A Case Report","volume":"70","author":"Raza","year":"2020","journal-title":"J. Pak. Med. Assoc."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"230","DOI":"10.12659\/AJCR.883446","article-title":"Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea","volume":"13","author":"Bucak","year":"2012","journal-title":"Am. J. Case Rep."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"2324709620982440","DOI":"10.1177\/2324709620982440","article-title":"Electrolyte Replacement in Bartter Syndrome with Abnormal Small Bowel: A Case Report","volume":"8","author":"Sobash","year":"2020","journal-title":"J. Investig. Med. High Impact Case Rep."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"300","DOI":"10.4103\/2230-8210.93775","article-title":"Status epilepticus as the only presentation of the neonatal Bartter syndrome","volume":"16","author":"Patra","year":"2012","journal-title":"Indian J. Endocrinol. Metab."},{"key":"ref_49","first-page":"e9175271","article-title":"Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus","volume":"2018","author":"Vergine","year":"2018","journal-title":"Case Rep. Pediatr."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"184","DOI":"10.4103\/0028-3886.198190","article-title":"Bartter\u2019s syndrome: A rare cause of seizures and quadriparesis","volume":"65","author":"Verma","year":"2017","journal-title":"Neurol. India"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"bcr0220125888","DOI":"10.1136\/bcr.02.2012.5888","article-title":"Classic Bartter syndrome: A rare cause of failure to thrive in a child","volume":"2012","author":"Vieira","year":"2012","journal-title":"BMJ Case Rep."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.ijporl.2016.10.028","article-title":"Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV","volume":"92","author":"Wang","year":"2017","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"492","DOI":"10.5414\/CN107206","article-title":"Bartter syndrome Type III and congenital anomalies of the kidney and urinary tract: An antenatal presentation","volume":"78","author":"Westland","year":"2012","journal-title":"Clin. Nephrol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"0300060520947876","DOI":"10.1177\/0300060520947876","article-title":"Bartter syndrome with long-term follow-up: A case report","volume":"48","author":"Wu","year":"2020","journal-title":"J. Int. Med. Res."},{"key":"ref_55","first-page":"65","article-title":"A Case of Bartter\u2019s Syndrome Presenting in Adulthood","volume":"14","author":"Yaqub","year":"2020","journal-title":"Kidney Dis. IJKD"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"e240898","DOI":"10.1136\/bcr-2020-240898","article-title":"Patient with Bartter syndrome in whom chronic potassium depletion was considered one of the causes of hyponatremia","volume":"14","author":"Yoshioka","year":"2021","journal-title":"BMJ Case Rep."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Zhu, B., Jiang, H., Cao, M., Zhao, X., and Jiang, H. (2019). A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: A case report. BMC Med. Genet., 20.","DOI":"10.1186\/s12881-019-0869-9"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"e294","DOI":"10.1111\/apa.12981","article-title":"Neonates with Bartter syndrome have enormous fluid and sodium requirements","volume":"104","author":"Azzi","year":"2015","journal-title":"Acta Paediatr."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"2145","DOI":"10.1007\/s00467-012-2212-y","article-title":"Bartter syndrome and growth hormone deficiency: Three cases","volume":"27","author":"Buyukcelik","year":"2012","journal-title":"Pediatr. Nephrol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.3109\/14767058.2013.783803","article-title":"Neonatal Bartter syndrome and unilateral ectopic renal cyst as new renal causes of hydrops fetalis: Two case reports and review of the literature","volume":"26","author":"Durmaz","year":"2013","journal-title":"J. Matern. Neonatal Med."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1007\/s12020-019-02156-9","article-title":"Thirteen novel CLCNKB variants and genotype\/phenotype association study in 42 Chinese patients with Bartter syndrome type 3","volume":"68","author":"Han","year":"2019","journal-title":"Endocrine"},{"key":"ref_62","first-page":"S58","article-title":"A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome","volume":"25","author":"Hussain","year":"2015","journal-title":"J. Coll. Physicians Surg. Pak."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"e1679","DOI":"10.1210\/clinem\/dgab821","article-title":"Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report","volume":"107","author":"London","year":"2021","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1007\/s12098-014-1379-6","article-title":"Genetic Analysis in Bartter Syndrome from India","volume":"81","author":"Sharma","year":"2014","journal-title":"Indian J. Pediatr."},{"key":"ref_65","unstructured":"Yang, X., Zhang, G., Wang, M., Yang, H., and Li, Q. (2023, July 27). Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen. Frontiers in Pediatrics. Available online: https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2018.00153."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.cca.2020.10.002","article-title":"Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2","volume":"511","author":"Zuo","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_67","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":"2017","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1016\/j.kint.2017.10.016","article-title":"Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies","volume":"93","author":"Ashton","year":"2018","journal-title":"Kidney Int."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1016\/j.kint.2019.08.027","article-title":"High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults","volume":"96","author":"Hureaux","year":"2019","journal-title":"Kidney Int."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s12519-012-0333-9","article-title":"Understanding Bartter syndrome and Gitelman syndrome","volume":"8","author":"Fremont","year":"2012","journal-title":"World J. Pediatr."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"454","DOI":"10.2215\/CJN.02950906","article-title":"A Thiazide Test for the Diagnosis of Renal Tubular Hypokalemic Disorders","volume":"2","author":"Colussi","year":"2007","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/bmj.2.5508.262","article-title":"Mineral metabolism, mania, and melancholia","volume":"2","author":"Shaw","year":"1966","journal-title":"Br. Med. J."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1136\/pgmj.39.447.19","article-title":"Electrolytes and Depressive Illness","volume":"39","author":"Gibbons","year":"1963","journal-title":"Postgrad. Med. J."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/S0165-1781(99)00018-9","article-title":"Hypokalemia and agitation in acute psychotic patients","volume":"86","author":"Hatta","year":"1999","journal-title":"Psychiatry Res."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1093\/bja\/aew102","article-title":"New guideline for perioperative management of people with inherited salt-wasting alkaloses","volume":"116","author":"Gallagher","year":"2016","journal-title":"Br. J. Anaesth."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1023\/A:1014593404915","article-title":"Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors","volume":"11","author":"Bennett","year":"2002","journal-title":"J. Genet. Couns."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/humu.21232","article-title":"Mutations of a country: A mutation review of single gene disorders in the United Arab Emirates (UAE)","volume":"31","author":"Ali","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_78","first-page":"841","article-title":"Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report","volume":"13","author":"Hamamy","year":"2011","journal-title":"Anesth. Analg."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/j.earlhumdev.2010.08.003","article-title":"The impact of consanguinity on neonatal and infant health","volume":"86","author":"Bittles","year":"2010","journal-title":"Early Hum. Dev."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"2023","DOI":"10.1002\/ajmg.a.33537","article-title":"The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations","volume":"152A","author":"Zlotogora","year":"2010","journal-title":"Am. J. Med. Genet. Part A"}],"container-title":["Medicina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1648-9144\/59\/9\/1638\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:48:32Z","timestamp":1760129312000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1648-9144\/59\/9\/1638"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,11]]},"references-count":80,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2023,9]]}},"alternative-id":["medicina59091638"],"URL":"https:\/\/doi.org\/10.3390\/medicina59091638","relation":{},"ISSN":["1648-9144"],"issn-type":[{"value":"1648-9144","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,11]]}}}