{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T21:39:58Z","timestamp":1791322798108,"version":"4.3.1"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2006,5,1]],"date-time":"2006-05-01T00:00:00Z","timestamp":1146441600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2006,5]]},"DOI":"10.1007\/s00467-006-0062-1","type":"journal-article","created":{"date-parts":[[2006,3,28]],"date-time":"2006-03-28T16:08:18Z","timestamp":1143562098000},"page":"643-648","source":"Crossref","is-referenced-by-count":33,"title":["Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families"],"prefix":"10.1007","volume":"21","author":[{"given":"V\u00edctor","family":"Garc\u00eda-Nieto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Flores","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria I.","family":"Luis-Yanes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Gallego","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas","family":"Villar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F\u00e9lix","family":"Claverie-Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,5,1]]},"reference":[{"key":"62_CR1","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1016\/0002-9343(62)90214-0","volume":"33","author":"FC Bartter","year":"1962","unstructured":"Bartter FC, Pronove P, Gill JR Jr, MacCardle RC (1962) Hyperplasia of juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. Am J Med 33:811\u2013828","journal-title":"Am J Med"},{"key":"62_CR2","first-page":"F961","volume":"271","author":"DB Simon","year":"1996","unstructured":"Simon DB, Lifton RP (1996) The molecular basis of inherited hypokalemic alkalosis: Bartter\u2019s and Gitelman\u2019s syndromes. Am J Physiol 271:F961\u2013F966","journal-title":"Am J Physiol"},{"key":"62_CR3","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1038\/ng0696-183","volume":"13","author":"DB Simon","year":"1996","unstructured":"Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (1996) Bartter\u2019s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13:183\u2013188","journal-title":"Nat Genet"},{"key":"62_CR4","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/ng1096-152","volume":"14","author":"DB Simon","year":"1996","unstructured":"Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP (1996) Genetic heterogeneity of Bartter\u2019s syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14:152\u2013156","journal-title":"Nat Genet"},{"key":"62_CR5","doi-asserted-by":"publisher","first-page":"694","DOI":"10.1016\/S0022-3476(85)80395-4","volume":"107","author":"HW Seyberth","year":"1985","unstructured":"Seyberth HW, Rascher W, Schweer H, Kuhl PG, Mehls O, Scharer K (1985) Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. J Pediatr 107:694\u2013701","journal-title":"J Pediatr"},{"key":"62_CR6","doi-asserted-by":"publisher","first-page":"1696","DOI":"10.1093\/ndt\/gfg249","volume":"18","author":"I Zelikovic","year":"2003","unstructured":"Zelikovic I (2003) Hypokalaemic salt-losing tubulopathies: an evolving story. Nephrol Dial Transplant 18:1696\u20131700","journal-title":"Nephrol Dial Transplant"},{"key":"62_CR7","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1038\/ng1097-171","volume":"172","author":"DB Simon","year":"1997","unstructured":"Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter\u2019s syndrome type III. Nat Genet 172:171\u2013178","journal-title":"Nat Genet"},{"key":"62_CR8","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/S0002-9343(98)00196-X","volume":"105","author":"LM Guay-Woodford","year":"1998","unstructured":"Guay-Woodford LM (1998) Bartter syndrome: unravelling the pathophysiologic enigma. Am J Med 105:151\u2013161","journal-title":"Am J Med"},{"key":"62_CR9","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1007\/s004670050461","volume":"12","author":"J Rodriguez-Soriano","year":"1998","unstructured":"Rodriguez-Soriano J (1998) Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol 12:315\u2013327","journal-title":"Pediatr Nephrol"},{"key":"62_CR10","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1002\/ajmg.1320590411","volume":"59","author":"D Landau","year":"1995","unstructured":"Landau D, Shalev H, Ohaly M, Carmi R (1995) Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 59:454\u2013459","journal-title":"Am J Med Genet"},{"key":"62_CR11","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1086\/301708","volume":"62","author":"TMH Brennan","year":"1998","unstructured":"Brennan TMH, Landau D, Shalev H, Lamb F, Schutte BC, Walder RY, Mark AL, Carmi R, Sheffield VC (1998) Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am J Hum Genet 62:355\u2013361","journal-title":"Am J Hum Genet"},{"key":"62_CR12","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng752","volume":"29","author":"R Birkenh\u00e4ger","year":"2001","unstructured":"Birkenh\u00e4ger R, Otto E, Sch\u00fcrmann MJ, Vollmer M, Ruf E-M, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad D, Landau D, Knoers NVAM, Antignac C, Sudbrak R, Kispert A, Hildebrandt F (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310\u2013314","journal-title":"Nat Genet"},{"key":"62_CR13","doi-asserted-by":"publisher","first-page":"2259","DOI":"10.1097\/01.ASN.0000025781.16723.68","volume":"13","author":"R Vargas-Poussou","year":"2002","unstructured":"Vargas-Poussou R, Huang C, Hulin P, Houillier P, Jeunemaitre X, Paillard M, Planelles G, Dechaux M, Miller RT, Antignac C (2002) Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 13:2259\u20132266","journal-title":"J Am Soc Nephrol"},{"key":"62_CR14","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1016\/S0140-6736(02)09842-2","volume":"360","author":"S Watanabe","year":"2002","unstructured":"Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T (2002) Association between activating mutations of calcium-sensing receptor and Bartter\u2019s syndrome. Lancet 360:692\u2013694","journal-title":"Lancet"},{"key":"62_CR15","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1203\/00006450-197302000-00004","volume":"7","author":"C Chaimovitz","year":"1973","unstructured":"Chaimovitz C, Levi J, Better OS, Oslander L, Benderli A (1973) Studies on the site of renal salt loss in a patient with Bartter\u2019s syndrome. Pediatr Res 7:89\u201394","journal-title":"Pediatr Res"},{"key":"62_CR16","first-page":"141","volume":"33","author":"J Rodriguez-Soriano","year":"1978","unstructured":"Rodriguez-Soriano J, Vallo A, Oliveros R (1978) Bartter\u2019s syndrome presenting with features resembling renal tubular acidosis. Improvement of renal tubular defects by indomethacin. Helv Paediatr Acta 33:141\u2013151","journal-title":"Helv Paediatr Acta"},{"key":"62_CR17","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/35107099","volume":"414","author":"R Est\u00e9vez","year":"2001","unstructured":"Est\u00e9vez R, Boettger T, Stein V, Birkenh\u00e4ger R, Otto E, Hildebrandt F, Jentsch TJ (2001) Barttin is a Cl\u2212 channel \u03b2-subunit crucial for renal Cl\u2212 reabsorption and inner ear K+ secretion. Nature 414:558\u2013561","journal-title":"Nature"},{"key":"62_CR18","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1007\/s00424-002-0819-8","volume":"444","author":"S Waldegger","year":"2002","unstructured":"Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, Kurtz A, Konrad M, Seyberth HW (2002) Barttin increases surface expression and changes current properties of ClC-K channels. Pflugers Arch 444:411\u2013418","journal-title":"Pflugers Arch"},{"key":"62_CR19","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1007\/s00418-003-0535-2","volume":"119","author":"A Hayama","year":"2003","unstructured":"Hayama A, Rai T, Sasaki S, Uchida S (2003) Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. Histochem Cell Biol 119:485\u2013493","journal-title":"Histochem Cell Biol"},{"key":"62_CR20","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1056\/NEJMoa032843","volume":"350","author":"KP Schlingmann","year":"2004","unstructured":"Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S (2004) Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med 350:1314\u20131349","journal-title":"N Engl J Med"},{"key":"62_CR21","doi-asserted-by":"publisher","first-page":"E5","DOI":"10.1542\/peds.108.1.e5","volume":"108","author":"N Jeck","year":"2001","unstructured":"Jeck N, Reinalter SC, Henne T, Marg W, Mallmann R, Pasel K, Vollmer M, Klaus G, Leonhardt A, Seyberth HW, Konrad M (2001) Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 108:E5","journal-title":"Pediatrics"},{"key":"62_CR22","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1542\/peds.112.3.628","volume":"112","author":"H Shalev","year":"2003","unstructured":"Shalev H, Ohali M, Kachko L, Landau D (2003) The neonatal variant of Bartter syndrome and deafness: preservation of renal function. Pediatrics 112:628\u2013633","journal-title":"Pediatrics"},{"key":"62_CR23","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1210\/jc.2002-021398","volume":"88","author":"N Miyamura","year":"2003","unstructured":"Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, Toyonaga T, Sakakida M, Araki E (2003) A typical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. J Clin Endocrinol Metab 88:781\u2013786","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-006-0062-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-006-0062-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-006-0062-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-006-0062-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,11,21]],"date-time":"2019-11-21T06:28:36Z","timestamp":1574317716000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-006-0062-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,5]]}},"alternative-id":["62"],"URL":"https:\/\/doi.org\/10.1007\/s00467-006-0062-1","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5]]}}}