{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T16:55:09Z","timestamp":1773248109634,"version":"3.50.1"},"reference-count":13,"publisher":"FapUNIFESP (SciELO)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Einstein (S\u00e3o Paulo)"],"abstract":"<jats:p>Abstract Bartter syndrome comprises a group of rare autosomal-recessive salt-losing disorders with distinct phenotypes, but one unifying pathophysiology consisting of severe reductions of sodium reabsorption caused by mutations in five genes expressed in the thick ascending limb of Henle, coupled with increased urinary excretion of potassium and hydrogen, which leads to hypokalemic alkalosis. Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period. We report an unusual case of late onset presentation of Bartter syndrome IV and mild phenotype in a 20 years-old man who had hypokalemia, deafness, secondary hyperparathyroidism and erythrocytosis.<\/jats:p>","DOI":"10.1590\/s1679-45082015rc3013","type":"journal-article","created":{"date-parts":[[2015,10,29]],"date-time":"2015-10-29T03:17:54Z","timestamp":1446088674000},"page":"604-606","source":"Crossref","is-referenced-by-count":20,"title":["Adult presentation of Bartter syndrome type IV with erythrocytosis"],"prefix":"10.1590","volume":"13","author":[{"given":"Ita Pfeferman","family":"Heilberg","sequence":"first","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo, Brazil"}]},{"given":"Cl\u00e1udia","family":"T\u00f3toli","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo, Brazil"}]},{"given":"Joaquim Tomaz","family":"Calado","sequence":"additional","affiliation":[{"name":"Universidade Nova de Lisboa, Portugal"}]}],"member":"530","published-online":{"date-parts":[[2015,10,30]]},"reference":[{"issue":"3","key":"ref1","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"},{"issue":"2","key":"ref2","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 beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin","volume":"88","author":"Miyamura N","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"ref3","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1093\/ndt\/gfl493","article-title":"Unusual adult-onset manifestation of an attenuated Bartter\u00b4s syndrome type IV renal phenotype caused by a mutation in BSND","volume":"22","author":"Brum S","year":"2007","journal-title":"Nephrol Dial Transplant"},{"issue":"5","key":"ref4","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":"6863","key":"ref5","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1038\/35107099","article-title":"Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion","volume":"414","author":"Est\u00e9vez R","year":"2001","journal-title":"Nature"},{"issue":"1","key":"ref6","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1681\/ASN.2008010102","article-title":"Disease-causing disfunctions of Barttin in Bartter Syndrome type IV","volume":"20","author":"Janssen AG","year":"2009","journal-title":"J Am Soc Nephrol"},{"issue":"10-11","key":"ref7","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1007\/PL00013418","article-title":"Phenotypic variability in Bartter syndrome type I","volume":"14","author":"Berttinelli A","year":"2000","journal-title":"Pediatr Nephrol"},{"issue":"8","key":"ref8","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1007\/s00467-007-0468-4","article-title":"A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism","volume":"22","author":"Nozu K","year":"2007","journal-title":"Pediatric Nephrol"},{"issue":"5","key":"ref9","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/0002-9343(73)90196-4","article-title":"Bartter\u2019s syndrome and erythrocytosis","volume":"55","author":"Erkelens DW","year":"1973","journal-title":"Am J Med"},{"issue":"7","key":"ref10","first-page":"676","article-title":"A case of pseudohypoparathyroidism (PHP) type II associated with Bartter\u2019s syndromerestoration of phosphaturic response to parathyroid hormone (PTH) by treatment for hypopotassemia","volume":"68","author":"Bando Y","year":"1992","journal-title":"Nihon Naibunpi Gakkai Zasshi"},{"issue":"5","key":"ref11","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1507\/endocrj1954.28.595","article-title":"A case report of pseudohypoparathyroidism (Drezner\u2019s type I) associated with probable Bartter\u2019s syndrome","volume":"28","author":"Iba K","year":"1981","journal-title":"Endocrinol Jpn"},{"issue":"8","key":"ref12","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1007\/s00467-004-1527-8","article-title":"Bartter syndrome: benefits and side effects of long-term treatment","volume":"19","author":"Vaisbich MH","year":"2004","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"ref13","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1111\/j.0954-6820.1980.tb09738.x","article-title":"Hyperreninemia, lysozymuria, and erythrocytosis in Fanconi syndrome with medullary cystic kidney","volume":"207","author":"Fyhrquist FY","year":"1980","journal-title":"Acta Med Scand"}],"container-title":["Einstein (S\u00e3o Paulo)"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/eins\/v13n4\/1679-4508-eins-S1679-45082015RC3013.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,31]],"date-time":"2025-05-31T06:31:17Z","timestamp":1748673077000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S1679-45082015000400604&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,30]]},"references-count":13,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2015,12]]}},"alternative-id":["S1679-45082015000400604"],"URL":"https:\/\/doi.org\/10.1590\/s1679-45082015rc3013","relation":{},"ISSN":["2317-6385","1679-4508"],"issn-type":[{"value":"2317-6385","type":"electronic"},{"value":"1679-4508","type":"print"}],"subject":[],"published":{"date-parts":[[2015,10,30]]}}}