{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:58:58Z","timestamp":1740142738838,"version":"3.37.3"},"reference-count":14,"publisher":"FapUNIFESP (SciELO)","issue":"2","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev. Bras. Saude Mater. Infant."],"abstract":"<jats:p>Abstract Introduction: Bartter\u2019s syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter\u2019s syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter\u2019s syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter\u2019s syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.<\/jats:p>","DOI":"10.1590\/1806-93042021000200018","type":"journal-article","created":{"date-parts":[[2021,9,10]],"date-time":"2021-09-10T12:04:03Z","timestamp":1631275443000},"page":"679-684","source":"Crossref","is-referenced-by-count":1,"title":["Severe polyhydramnios as neonatal presentation of Bartter\u2019s syndrome type IV"],"prefix":"10.1590","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1169-2482","authenticated-orcid":false,"given":"Mariana Alvarenga Hoesen Doutel","family":"Coroado","sequence":"first","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3776-4923","authenticated-orcid":false,"given":"Joana Manuel Silva Fernandes Lopes","family":"Tavares","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5818-5672","authenticated-orcid":false,"given":"Ant\u00f3nio Gon\u00e7alo Inoc\u00eancio Vila","family":"Verde","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9732-3433","authenticated-orcid":false,"given":"Maria do C\u00e9u Pinh\u00e3o Pina","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3827-0148","authenticated-orcid":false,"given":"Liane Maria Correia Rodrigues da Costa Nogueira","family":"Silva","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8478-9226","authenticated-orcid":false,"given":"Sara Maria Mosca Ferreira da","family":"Silva","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9957-3471","authenticated-orcid":false,"given":"Maria do C\u00e9u Rocha","family":"Mota","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1824-7426","authenticated-orcid":false,"given":"Jorge de Sousa","family":"Braga","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto, Portugal"}]}],"member":"530","published-online":{"date-parts":[[2021,6]]},"reference":[{"key":"ref1","article-title":"Bartter syndrome.","author":"Giacomo C.","year":"2001","journal-title":"Orphanet [online]"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"291","DOI":"10.2147\/IJNRD.S155397","article-title":"Bartter syndrome: causes, diagnosis, and treatment.","volume":"11","author":"Cunha T","year":"2018","journal-title":"Int J Nephrol Renovasc Dis."},{"issue":"1","key":"ref3","first-page":"65","article-title":"Bartter syndrome - report of an unusual late presentation case and brief review","volume":"30","author":"Costa BM","year":"2016","journal-title":"Port J Nephrol Hypert"},{"key":"ref4","article-title":"BSND GENE","author":"Hamosh A","year":"2001","journal-title":"Online Mendelian Inheritance in Man [online]"},{"issue":"2","key":"ref5","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1097\/MOP.0000000000000447","article-title":"Bartter's and Gitelman's syndrome","volume":"29","author":"Seyberth HW","year":"2017","journal-title":"Curr Opin Pediatr"},{"issue":"2","key":"ref6","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1210\/jc.2002-021398","article-title":"Atypical Bartter Syndrome with Sensorineural Deafness with G47R Mutation of the \u03b2-Subunit for ClC-Ka and ClC- Kb Chloride Channels, Barttin","volume":"88","author":"Miyamura N","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"issue":"Suppl.1","key":"ref7","first-page":"69","article-title":"Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.","volume":"75","author":"Park CW","year":"2011","journal-title":"Clin Nephrol."},{"issue":"2","key":"ref8","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1007\/s00467-005-2091-6","article-title":"A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.","volume":"21","author":"Kitanaka S","year":"2006","journal-title":"Pediatr Nephrol."},{"issue":"1","key":"ref9","doi-asserted-by":"crossref","first-page":"1706","DOI":"10.1681\/ASN.V8111706","article-title":"A Common NKCC2 Mutation in Costa Rican Bartter\u2019s Syndrome Patients: Evidence for a Founder Effect.","volume":"8","author":"Kurtz LC","year":"1997","journal-title":"J Am Soc Nephrol."},{"issue":"5","key":"ref10","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1007\/s00467-006-0062-1","article-title":"Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families","volume":"21","author":"Garc\u00eda-Nieto V","year":"2006","journal-title":"Pediatr Nephrol"},{"issue":"3","key":"ref11","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng752","article-title":"Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.","volume":"29","author":"Birkenh\u00e4ger R","year":"2001","journal-title":"Nat Genet."},{"key":"ref12","series-title":"Obstetrics: Normal and Problem Pregnancies","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/B978-0-323-32108-2.00035-4","volume-title":"Amniotic Fluid Disorders","author":"Gilbert WM.","year":"2017","edition":"7"},{"key":"ref13","article-title":"\u00c0rea de Medicina Fetal, Servei de Medicina Materno-fetal.","author":"Mula R","year":"2012","journal-title":"Institut Cl\u00ednic de Ginecologia, Obstetr\u00edcia i Neonatologia - Hospital Cl\u00ednic de Barcelona. Protocolo: Polihidramnios en gestaci\u00f3n \u00fanica. [online]"},{"issue":"3","key":"ref14","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1203\/PDR.0b013e3181ca038d","article-title":"Bartter Syndrome Prenatal Diagnosis Based on Amniotic Fluid Biochemical Analysis.","volume":"67","author":"Garnier A","year":"2010","journal-title":"Pediatr Res."}],"container-title":["Revista Brasileira de Sa\u00fade Materno Infantil"],"original-title":[],"deposited":{"date-parts":[[2023,1,8]],"date-time":"2023-01-08T23:40:42Z","timestamp":1673221242000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S1519-38292021000400679&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":14,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,6]]}},"alternative-id":["S1519-38292021000400679"],"URL":"https:\/\/doi.org\/10.1590\/1806-93042021000200018","relation":{},"ISSN":["1806-9304","1519-3829"],"issn-type":[{"type":"electronic","value":"1806-9304"},{"type":"print","value":"1519-3829"}],"subject":[],"published":{"date-parts":[[2021,6]]}}}