{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T04:24:40Z","timestamp":1782879880891,"version":"3.54.5"},"reference-count":53,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,6,3]],"date-time":"2022-06-03T00:00:00Z","timestamp":1654214400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Bartter syndrome (BS) is a rare tubulopathy that causes polyuria, hypokalemia, hypochloremic metabolic alkalosis, and normotensive hyperreninemic hyperaldosteronism. It is characterized by locus, clinical, and allelic heterogeneity. Types 1\u20134 of BS are inherited according to an autosomal recessive pattern, while type 5, which is transient, is X linked. There are specific correlations between the clinical expression and the molecular defect, but since it is a rare disease, such studies are rare. Therapeutic interventions are different, being correlated with types of BS.<\/jats:p>","DOI":"10.3389\/fped.2022.908655","type":"journal-article","created":{"date-parts":[[2022,6,3]],"date-time":"2022-06-03T04:47:23Z","timestamp":1654231643000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":23,"title":["Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance"],"prefix":"10.3389","volume":"10","author":[{"given":"Laura","family":"Florea","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lavinia","family":"Caba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eusebiu Vlad","family":"Gorduza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,6,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","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":"B2","year":"2022","journal-title":"\u00abPrevalence of Rare Diseases: Bibliographic Data\u00bb, Orphanet Report Series, Rare Diseases Collection, Janvier 2022."},{"key":"B3","doi-asserted-by":"publisher","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":"B4","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1007\/s00467-021-05019-6","article-title":"Pathophysiological aspects of the thick ascending limb and novel genetic defects: helix syndrome and transient antenatal Bartter syndrome.","volume":"37","author":"Vargas-Poussou","year":"2021","journal-title":"Pediatr Nephrol."},{"key":"B5","year":"2022","journal-title":"The Resource for Approved Human Gene Nomenclature."},{"key":"B6","year":"2022","journal-title":"The Mission of UniProt is to Provide the Scientific Community with a Comprehensive, High-Quality and Freely Accessible Resource of Protein Sequence and Functional Information."},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.2147\/IJNRD.S155397","article-title":"Bartter syndrome: causes, diagnosis, and treatment.","volume":"11","author":"da Silva Cunha","year":"2018","journal-title":"Int J Nephrol Renovasc Dis."},{"key":"B8","first-page":"21","article-title":"Anatomy and physiology of the kidneys.","author":"Covic","year":"","journal-title":"Nephrology. 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