{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T01:26:38Z","timestamp":1790213198948,"version":"4.1.0"},"reference-count":47,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,5,18]],"date-time":"2022-05-18T00:00:00Z","timestamp":1652832000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009888","name":"Tuscany Region","doi-asserted-by":"publisher","award":["NIKE"],"award-info":[{"award-number":["NIKE"]}],"id":[{"id":"10.13039\/501100009888","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies, whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. Genotype\u2013phenotype correlations have important implications in defining kidney and global outcomes. The aim of our study was to assess the diagnostic rate of whole-exome sequencing (WES) coupled with a bioinformatic analysis of copy number variations in a population of 63 patients with BS and GS from a single institution, and to explore genotype-phenotype correlations. We obtained a diagnostic yield of 86% (54\/63 patients), allowing disease reclassification in about 14% of patients. Although some clinical and laboratory features were more commonly reported in patients with BS or GS, a significant overlap does exist, and age at onset, preterm birth, gestational age and nephro-calcinosis are frequently misleading. Finally, chronic kidney disease (CKD) occurs in about 30% of patients with BS or GS, suggesting that the long-term prognosis can be unfavorable. In our cohort the features associated with CKD were lower gestational age at birth and a molecular diagnosis of BS, especially BS type 1. The results of our study demonstrate that WES is useful in dealing with the phenotypic heterogeneity of these disorders, improving differential diagnosis and genotype-phenotype correlation.<\/jats:p>","DOI":"10.3390\/ijms23105641","type":"journal-article","created":{"date-parts":[[2022,5,18]],"date-time":"2022-05-18T11:59:37Z","timestamp":1652875177000},"page":"5641","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome"],"prefix":"10.3390","volume":"23","author":[{"given":"Viviana","family":"Palazzo","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6610-3251","authenticated-orcid":false,"given":"Valentina","family":"Raglianti","sequence":"additional","affiliation":[{"name":"Department of Biomedic, Experimental and Clinical Sciences \u201cMario Serio\u201d, University of Florence, 50139 Florence, Italy"},{"name":"Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7423-0325","authenticated-orcid":false,"given":"Samuela","family":"Landini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0440-7356","authenticated-orcid":false,"given":"Luigi","family":"Cirillo","sequence":"additional","affiliation":[{"name":"Department of Biomedic, Experimental and Clinical Sciences \u201cMario Serio\u201d, University of Florence, 50139 Florence, Italy"},{"name":"Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela","family":"Errichiello","sequence":"additional","affiliation":[{"name":"Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Buti","sequence":"additional","affiliation":[{"name":"Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosangela","family":"Artuso","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Tiberi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora","family":"Vergani","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4060-6464","authenticated-orcid":false,"given":"Elia","family":"Dirupo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1774-8088","authenticated-orcid":false,"given":"Paola","family":"Romagnani","sequence":"additional","affiliation":[{"name":"Department of Biomedic, Experimental and Clinical Sciences \u201cMario Serio\u201d, University of Florence, 50139 Florence, Italy"},{"name":"Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedetta","family":"Mazzinghi","sequence":"additional","affiliation":[{"name":"Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1011-7291","authenticated-orcid":false,"given":"Francesca","family":"Becherucci","sequence":"additional","affiliation":[{"name":"Nephrology and Dialysis Unit, Meyer Children\u2019s Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,18]]},"reference":[{"key":"ref_1","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":"ref_2","unstructured":"Bokhari, S.R.A., Zulfiqar, H., and Mansur, A. 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