{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T21:39:56Z","timestamp":1791322796853,"version":"4.3.1"},"reference-count":22,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,9,1]]},"abstract":"<jats:p>Background. A subtype of antenatal Bartter syndrome and sensorineural deafness (BSND) was originally described among families from southern Israel, and its gene (Barttin, OMIM #606412) has recently been identified. A report has suggested that these children develop chronic renal insufficiency during childhood attributable to chronic tubulointerstitial fibrosis and atrophy.<\/jats:p>\n               <jats:p>Methods. Data from 13 infants with BSND, who were born during a 20-year period in our institution, were retrospectively analyzed.<\/jats:p>\n               <jats:p>Results. All pregnancies were complicated by polyhydramnion and premature birth. All patients have sensorineural deafness, as well as hypokalemic metabolic alkalosis. Persistent hypercalciuria or nephrocalcinosis were absent in most children. All children have been treated with indomethacin (2 mg\/kg\/d) and potassium supplementation. The current average serum creatinine and calculated creatinine clearance from the older group (n = 8; mean age: 8.8 \u00b1 1.4 years) is 60.8 \u00b1 16.5 \u03bcmol\/L and 95 \u00b1 20 mL\/min\/1.73m2, respectively. Kidney biopsies from two 7-year-old patients revealed mild focal tubulointerstitial fibrosis and minimal mesangial proliferation but no glomerulosclerosis.<\/jats:p>\n               <jats:p>Conclusions. Early renal function deterioration is not a uniform finding among children with BSND mutations.<\/jats:p>","DOI":"10.1542\/peds.112.3.628","type":"journal-article","created":{"date-parts":[[2004,8,14]],"date-time":"2004-08-14T00:43:47Z","timestamp":1092444227000},"page":"628-633","source":"Crossref","is-referenced-by-count":40,"title":["The Neonatal Variant of Bartter Syndrome and Deafness: Preservation of Renal Function"],"prefix":"10.1542","volume":"112","author":[{"given":"Hanna","family":"Shalev","sequence":"first","affiliation":[{"name":"Department of Pediatrics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melly","family":"Ohali","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Barzilai Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonid","family":"Kachko","sequence":"additional","affiliation":[{"name":"Pathology, Soroka University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Landau","sequence":"additional","affiliation":[{"name":"Department of Pediatrics"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2003,9,1]]},"reference":[{"key":"2021120820254238100_R1","unstructured":"Sutton RA, Mavichak V, Halabe A, Wilkins GE. Bartter\u2019s syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner Electrolyte Metab.1992;18:43\u201351"},{"key":"2021120820254238100_R2","doi-asserted-by":"crossref","unstructured":"Ko\u0308ckerling A, Reinalter SC, Seyberth HW. Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. J Pediatr.1996;129:519\u2013528","DOI":"10.1016\/S0022-3476(96)70116-6"},{"key":"2021120820254238100_R3","doi-asserted-by":"crossref","unstructured":"Hunter M. Accessory to kidney disease. Nature.2001;414:502\u2013503","DOI":"10.1038\/35107186"},{"key":"2021120820254238100_R4","doi-asserted-by":"crossref","unstructured":"Landau D, Shalev H, Ohaly M, Carmi R. Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet.1995;59:454\u2013458","DOI":"10.1002\/ajmg.1320590411"},{"key":"2021120820254238100_R5","doi-asserted-by":"crossref","unstructured":"Estevez R, Boettger T, Stein V, et al. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature.2001;414:558\u2013561","DOI":"10.1038\/35107099"},{"key":"2021120820254238100_R6","doi-asserted-by":"crossref","unstructured":"Jeck N, Reinalter SC, Henne T, et al. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics.2001;108(1). Available at: http:\/\/www.pediatrics.org\/cgi\/content\/full\/108\/3\/e5","DOI":"10.1542\/peds.108.1.e5"},{"key":"2021120820254238100_R7","doi-asserted-by":"crossref","unstructured":"Brennan TMH, Landau D, Shalev H, et al. Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am J Hum Genet.1998;62:355\u2013361","DOI":"10.1086\/301708"},{"key":"2021120820254238100_R8","doi-asserted-by":"crossref","unstructured":"Birkenhager R, Otto E, Schermann MJ, et al. Bartter syndrome with sensorineural deafness and kidney failure is caused by mutation of a new gene expressed in kidney and during inner ear development. Nature Genet.2001;29:310\u2013314","DOI":"10.1038\/ng752"},{"key":"2021120820254238100_R9","doi-asserted-by":"crossref","unstructured":"Konrad M, Leonhardt A, Hensen P, Seyberth HW, Kockerling A. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. Pediatrics.1999;103:678\u2013683","DOI":"10.1542\/peds.103.3.678"},{"key":"2021120820254238100_R10","doi-asserted-by":"crossref","unstructured":"Schwartz GJ, Brion LP, Spitzer A. The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents. Pediatr Clin North Am.1987;34:571\u2013590","DOI":"10.1016\/S0031-3955(16)36251-4"},{"key":"2021120820254238100_R11","doi-asserted-by":"crossref","unstructured":"Makhoul IR, Sujov P, Smolkin T, Lusky A, Reichman B. Epidemiological, clinical and microbiological characteristics of late-onset sepsis among very low birth weight infants in Israel: a national survey. Pediatrics.2002;109:34\u201339","DOI":"10.1542\/peds.109.1.34"},{"key":"2021120820254238100_R12","doi-asserted-by":"crossref","unstructured":"Rudin A. Bartter\u2019s syndrome. A review of 28 patients followed for 10 years. Acta Med Scand.1988;224:165\u2013171","DOI":"10.1111\/j.0954-6820.1988.tb16755.x"},{"key":"2021120820254238100_R13","unstructured":"Sato K, Ogata M. A patient with chronic renal failure due to Bartter\u2019s syndrome. Nippon Jinzo Gakkai Shi.1995;37:404\u2013409"},{"key":"2021120820254238100_R14","doi-asserted-by":"crossref","unstructured":"Reinalter SC, Grone HJ, Konrad M, Seyberth HW, Klaus G. Evaluation of long-term treatment with indomethacin in hereditary hypokalemic salt-losing tubulopathies. J Pediatr.2001;139:398\u2013406","DOI":"10.1067\/mpd.2001.117007"},{"key":"2021120820254238100_R15","unstructured":"Riemenschneider T, Bohle A. Morphologic aspects of low-potassium and low-sodium nephropathy. Clin Nephrol.1983;19:271\u2013279"},{"key":"2021120820254238100_R16","doi-asserted-by":"crossref","unstructured":"Henrich WL, Agodoa LE, Barrett B, et al. Analgesics and the kidney: summary and recommendations to the Scientific Advisory Board of the National Kidney Foundation from an Ad Hoc Committee of the National Kidney Foundation. Am J Kidney Dis.1996;27:162\u2013165","DOI":"10.1016\/S0272-6386(96)90046-3"},{"key":"2021120820254238100_R17","doi-asserted-by":"crossref","unstructured":"Seidel C, Reinalter S, Seyberth HW, Scharer K. Pre-pubertal growth in the hyperprostaglandin E syndrome. Pediatr Nephrol.1995;9:723\u2013728","DOI":"10.1007\/BF00868723"},{"key":"2021120820254238100_R18","doi-asserted-by":"crossref","unstructured":"Seyberth HW, Rascher W, Schweer H, Kuhl PG, Mehls O, Scharer K. Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. J Pediatr.1985;107:694\u2013701","DOI":"10.1016\/S0022-3476(85)80395-4"},{"key":"2021120820254238100_R19","doi-asserted-by":"crossref","unstructured":"Pirson Y, van Ypersele de Strihou C. Renal side effects of nonsteroidal antiinflammatory drugs: clinical relevance. Am J Kidney Dis.1986;8:338\u2013344","DOI":"10.1016\/S0272-6386(86)80108-1"},{"key":"2021120820254238100_R20","doi-asserted-by":"crossref","unstructured":"Catterton Z, Sellers B, Gray B. Inulin clearance in the premature infant receiving indomethacin. J Pediatr.1980;96:737\u2013739","DOI":"10.1016\/S0022-3476(80)80757-8"},{"key":"2021120820254238100_R21","doi-asserted-by":"crossref","unstructured":"Finer G, Shalev H, Birk O, et al. Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. J Pediatr.2003;142:318\u2013323","DOI":"10.1067\/mpd.2003.100"},{"key":"2021120820254238100_R22","doi-asserted-by":"crossref","unstructured":"Waldegger S, Jeck N, Barth P, et al. Barttin increases surface expression and changes current properties of ClC-K channels. Pflugers Arch.2002;444:411\u2013418","DOI":"10.1007\/s00424-002-0819-8"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/112\/3\/628\/1006795\/pe0903000628.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/112\/3\/628\/1006795\/pe0903000628.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T00:23:20Z","timestamp":1639009400000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/112\/3\/628\/28690\/The-Neonatal-Variant-of-Bartter-Syndrome-and"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,9,1]]},"references-count":22,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2003,9,1]]},"published-print":{"date-parts":[[2003,9,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.112.3.628","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,9,1]]}}}