{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T03:28:58Z","timestamp":1792207738756,"version":"4.4.0"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T00:00:00Z","timestamp":1750896000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T00:00:00Z","timestamp":1750896000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["grant PI21\/01419"],"award-info":[{"award-number":["grant PI21\/01419"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010585","name":"Osasun Saila, Eusko Jaurlaritzako","doi-asserted-by":"publisher","award":["2019111052"],"award-info":[{"award-number":["2019111052"]}],"id":[{"id":"10.13039\/501100010585","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>\n                      Rare monogenic diseases are increasingly identified in children with chronic kidney disease. We describe a consanguineous preterm male infant with a clinical picture of advanced kidney dysfunction and severe renal salt-wasting, highly suggestive of prenatal onset Bartter syndrome. Patient\u2019s follow-up was characterized by severe polyuria; episodes of hyponatremia, hypokalemia, and hypochloremia; and metabolic alkalosis and hyperuricemia. We found a homozygous pathogenic variant in the\n                      <jats:italic>TFCP2L1<\/jats:italic>\n                      gene, a transcription factor required for normal kidney development, that regulates acid\u2013base and salt\u2013water homeostasis. To our knowledge, there is only one published case of a child with\n                      <jats:italic>TFCP2L1<\/jats:italic>\n                      gene pathogenic variants with a similar phenotype. This report adds evidence to\n                      <jats:italic>TFCP2L1<\/jats:italic>\n                      as a cause of monogenic kidney disorders. Rare kidney dysplasias may manifest as phenocopies of primary tubulopathies. Genetic diagnosis plays a major role and should be carefully considered in patients with refractory course to standard treatment to facilitate management and family counselling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00467-025-06804-3","type":"journal-article","created":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T07:33:18Z","timestamp":1750923198000},"page":"73-76","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants"],"prefix":"10.1007","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0494-0107","authenticated-orcid":false,"given":"Manuel","family":"Vaqueiro Gra\u00f1a","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4032-9842","authenticated-orcid":false,"given":"Leire","family":"Madariaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8863-4870","authenticated-orcid":false,"given":"Sara","family":"G\u00f3mez-Conde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6579-9373","authenticated-orcid":false,"given":"Ainhoa","family":"Iceta Lizarraga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5492-9569","authenticated-orcid":false,"given":"Josune","family":"Hualde Olascoaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1763-1098","authenticated-orcid":false,"given":"Gema","family":"Ariceta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,26]]},"reference":[{"key":"6804_CR1","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"6804_CR2","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1093\/ndt\/gfaa215","volume":"36","author":"V Kl\u00e4mbt","year":"2021","unstructured":"Kl\u00e4mbt V, Werth M, Onuchic-Whitford AC et al (2021) Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Nephrol Dial Transplant 36:237\u2013246","journal-title":"Nephrol Dial Transplant"},{"key":"6804_CR3","doi-asserted-by":"crossref","unstructured":"Werth M, Schmidt-Ott KM, Leete T et al (2017) Transcription factor TFCP2L1 patterns cells in the mouse kidney collecting ducts. Elife 6:e24265","DOI":"10.7554\/eLife.24265"},{"key":"6804_CR4","doi-asserted-by":"publisher","first-page":"4737","DOI":"10.1242\/dev.02658","volume":"133","author":"Y Yamaguchi","year":"2006","unstructured":"Yamaguchi Y, Yonemura S, Takada S (2006) Grainyhead-related transcription factor is required for duct maturation in the salivary gland and the kidney of the mouse. Development 133:4737\u20134748","journal-title":"Development"},{"key":"6804_CR5","doi-asserted-by":"publisher","first-page":"1815","DOI":"10.1007\/s00467-019-04371-y","volume":"35","author":"MTP Besouw","year":"2020","unstructured":"Besouw MTP, Kleta R, Bockenhauer D (2020) Bartter and Gitelman syndromes: questions of class. Pediatr Nephrol 35:1815\u20131824","journal-title":"Pediatr Nephrol"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-025-06804-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-025-06804-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-025-06804-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T08:39:46Z","timestamp":1765528786000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-025-06804-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,26]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["6804"],"URL":"https:\/\/doi.org\/10.1007\/s00467-025-06804-3","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,26]]},"assertion":[{"value":"10 February 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 April 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 April 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 June 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Informed consent was given by the parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}