{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T13:20:24Z","timestamp":1775481624299,"version":"3.50.1"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:00:00Z","timestamp":1639180800000},"content-version":"vor","delay-in-days":10,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"National Key Research and Development Project of China","award":["2016YFC0901500"],"award-info":[{"award-number":["2016YFC0901500"]}]},{"name":"National Key Research and Development Project of China","award":["2016YFC0905102"],"award-info":[{"award-number":["2016YFC0905102"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Transient antenatal Bartter\u2019s syndrome caused by <jats:italic>MAGED2<\/jats:italic> mutation is a rare X-linked recessive renal tubular disorder. Cases reported are mostly infants, and the long-term prognosis of the disease is still under investigation.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We encountered a preterm male infant with polyhydramnios, polyuria, salt loss, hypercalciuria, nephrocalcinosis and alkalosis. Antenatal Bartter\u2019s syndrome was suspected, but these clinical symptoms surprisingly disappeared after about 2 months. This led to the clinical diagnosis of transient antenatal Bartter\u2019s syndrome. Gene analysis in this patient disclosed a novel variant (c.1598C\u2009&gt;\u2009T, p.Ala533Val) in exon 12 of <jats:italic>MAGED2<\/jats:italic> gene, and his mother was a heterozygous carrier. This patient was followed up in clinic for 4\u2009years without recurrence of imbalance of potassium, sodium and chloride. His height and weight were in normal range, and all laboratory examinations and nephrotic ultrasound were also normal.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We reported the first Chinese case of transient antenatal Bartter\u2019s syndrome caused by <jats:italic>MAGED2<\/jats:italic> mutation. The 4-year follow-up of our case further demonstrates the benign prognosis of the disease and indicates that early recognition of this phenotype could avoid unnecessary treatments.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12882-021-02553-1","type":"journal-article","created":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T08:02:31Z","timestamp":1639209751000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter\u2019s syndrome with 4\u2009years follow-up"],"prefix":"10.1186","volume":"22","author":[{"given":"Mingsheng","family":"Ma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengqi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengxia","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenghong","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengqing","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,12,11]]},"reference":[{"issue":"3","key":"2553_CR1","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1007\/s004670050433","volume":"12","author":"S Reinalter","year":"1998","unstructured":"Reinalter S, Devlieger H, Proesmans W. Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms. Pediatr Nephrol. 1998;12(3):186\u20138. https:\/\/doi.org\/10.1007\/s004670050433.","journal-title":"Pediatr Nephrol"},{"issue":"19","key":"2553_CR2","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.1056\/NEJMoa1507629","volume":"374","author":"K Laghmani","year":"2016","unstructured":"Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, et al. Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations. N Engl J Med. 2016;374(19):1853\u201363. https:\/\/doi.org\/10.1056\/NEJMoa1507629.","journal-title":"N Engl J Med"},{"issue":"2","key":"2553_CR3","doi-asserted-by":"publisher","first-page":"242","DOI":"10.2215\/CJN.05670517","volume":"13","author":"A Legrand","year":"2018","unstructured":"Legrand A, Treard C, Roncelin I, Dreux S, Bertholet-Thomas A, Broux F, et al. Prevalence of novel MAGED2 mutations in antenatal Bartter syndrome. 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Approved by the Institutional Review Board of Peking Union Medical College Hospital (PUMCH). Written informed consent was obtained from the mother.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from parents for the publication of all personal information contained in this case report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"None.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"408"}}