{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:19:17Z","timestamp":1791231557080,"version":"4.1.0"},"reference-count":41,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,7,1]]},"abstract":"<jats:sec>\n                  <jats:title>Objective.<\/jats:title>\n                  <jats:p>To characterize a rare inherited hypokalemic salt-losing tubulopathy with linkage to chromosome 1p31.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods.<\/jats:title>\n                  <jats:p>We conducted a retrospective analysis of the clinical data for 7 patients in whom cosegregation of the disease with chromosome 1p31 had been demonstrated. In addition, in 1 kindred, prenatal diagnosis in the second child was established, allowing a prospective clinical evaluation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results.<\/jats:title>\n                  <jats:p>Clinical presentation of the patients was homogeneous and included premature birth attributable to polyhydramnios, severe renal salt loss, normotensive hyperreninemia, hypokalemic alkalosis, and excessive hyperprostaglandin E-uria, which suggested the diagnosis of hyperprostaglandin E syndrome\/antenatal Bartter syndrome. However, the response to indomethacin was only poor, accounting for a more severe variant of the disease. The patients invariably developed chronic renal failure. The majority had extreme growth retardation, and motor development was markedly delayed. In addition, all patients turned out to be deaf.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion.<\/jats:title>\n                  <jats:p>The hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness represents not only genetically but also clinically a disease entity distinct from hyperprostaglandin E syndrome\/antenatal Bartter syndrome. A pleiotropic effect of a single gene defect is most likely causative for syndromic hearing loss.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1542\/peds.108.1.e5","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:55:51Z","timestamp":1092441351000},"page":"e5-e5","source":"Crossref","is-referenced-by-count":90,"title":["Hypokalemic Salt-Losing Tubulopathy With Chronic Renal Failure and Sensorineural Deafness"],"prefix":"10.1542","volume":"108","author":[{"given":"Nikola","family":"Jeck","sequence":"first","affiliation":[{"name":"From the Departments of Pediatrics, Philipps-University, Marburg;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan C.","family":"Reinalter","sequence":"additional","affiliation":[{"name":"From the Departments of Pediatrics, Philipps-University, Marburg;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Henne","sequence":"additional","affiliation":[{"name":"School of Medicine, Hannover;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Marg","sequence":"additional","affiliation":[{"name":"Hospital Sankt-Ju\u0308rgen-Strasse, Bremen;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudolf","family":"Mallmann","sequence":"additional","affiliation":[{"name":"Elisabeth-Hospital, Essen;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Pasel","sequence":"additional","affiliation":[{"name":"Charite\u0301, Berlin; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Vollmer","sequence":"additional","affiliation":[{"name":"Albert-Ludwigs-University, Freiburg, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gu\u0308nter","family":"Klaus","sequence":"additional","affiliation":[{"name":"From the Departments of Pediatrics, Philipps-University, Marburg;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Leonhardt","sequence":"additional","affiliation":[{"name":"From the Departments of Pediatrics, Philipps-University, Marburg;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannsjo\u0308rg W.","family":"Seyberth","sequence":"additional","affiliation":[{"name":"From the Departments of Pediatrics, Philipps-University, Marburg;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Konrad","sequence":"additional","affiliation":[{"name":"From the Departments of Pediatrics, Philipps-University, Marburg;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2001,7,1]]},"reference":[{"key":"2021121011035633900_B1"},{"key":"2021121011035633900_B2"},{"key":"2021121011035633900_B3","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/S0022-3476(85)80395-4","article-title":"Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome.","volume":"107","author":"Seyberth","year":"1985","journal-title":"J Pediatr"},{"key":"2021121011035633900_B4","first-page":"17","article-title":"Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.","volume":"6","author":"Ka\u0301rolyi","year":"1997","journal-title":"Hum Mol Genet"},{"key":"2021121011035633900_B5","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1086\/301872","article-title":"Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.","volume":"62","author":"Vargas-Poussou","year":"1998","journal-title":"Am J Hum Genet"},{"key":"2021121011035633900_B6","first-page":"144","article-title":"Chronic hypokalaemia with growth retardation, normotensive hyperrenin-hyperaldosteronism (\u201cBartter's syndrome\u201d), and hypercalciuria.","volume":"26","author":"Fanconi","year":"1971","journal-title":"Helv Paediatr Acta"},{"key":"2021121011035633900_B7","first-page":"286","article-title":"Hypercalciuria in potassium-losing nephropathy: a variant of Bartter's syndrome.","volume":"10","author":"McCredie","year":"1974","journal-title":"Aust Paediatr J"},{"key":"2021121011035633900_B8","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1016\/S0022-3476(96)70116-6","article-title":"Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle.","volume":"129","author":"Ko\u0308ckerling","year":"1996","journal-title":"J Pediatr"},{"key":"2021121011035633900_B9","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1007\/BF00849259","article-title":"Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders.","volume":"1","author":"Seyberth","year":"1987","journal-title":"Pediatr Nephrol"},{"key":"2021121011035633900_B10","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1007\/BF00868723","article-title":"Prepubertal growth in hyperprostaglandin E syndrome.","volume":"9","author":"Seidel","year":"1995","journal-title":"Pediatr Nephrol"},{"key":"2021121011035633900_B11","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1542\/peds.103.3.678","article-title":"Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.","volume":"103","author":"Konrad","year":"1999","journal-title":"Pediatrics"},{"key":"2021121011035633900_B12","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1038\/ng0696-183","article-title":"Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.","volume":"13","author":"Simon","year":"1996","journal-title":"Nat Genet"},{"key":"2021121011035633900_B13","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/ng1096-152","article-title":"Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.","volume":"14","author":"Simon","year":"1996","journal-title":"Nat Genet"},{"key":"2021121011035633900_B14","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1152\/physrev.1985.65.3.760","article-title":"Ion transport mechanisms in thick ascending limb of Henle's loop of mammalian nephron.","volume":"65","author":"Greger","year":"1985","journal-title":"Physiol Rev"},{"key":"2021121011035633900_B15","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1007\/s004670050280","article-title":"Bartter syndrome in Costa Rica: a description of 20 cases.","volume":"11","author":"Madrigal","year":"1997","journal-title":"Pediatr Nephrol"},{"key":"2021121011035633900_B16","doi-asserted-by":"crossref","first-page":"53","DOI":"10.3109\/00206098109072682","article-title":"Brainstem evoked response audiometry: normative data from the preterm infant.","volume":"20","author":"Cox","year":"1981","journal-title":"Audiology"},{"key":"2021121011035633900_B17","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1542\/peds.73.1.22","article-title":"Hearing screening of high-risk newborns with brainstem auditory evoked potentials: a follow-up study.","volume":"73","author":"Shannon","year":"1984","journal-title":"Pediatrics"},{"key":"2021121011035633900_B18","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1002\/ajmg.1320590411","article-title":"Infantile variant of Bartter syndrome and sensorineural deafness. 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Results of long-term indomethacin therapy.","volume":"48","author":"Dillon","year":"1979","journal-title":"QJM"},{"key":"2021121011035633900_B35","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.0954-6820.1988.tb16755.x","article-title":"Bartter's syndrome: a review of 28 patients followed for 10 years.","volume":"224","author":"Rudin","year":"1988","journal-title":"Acta Med Scand"},{"key":"2021121011035633900_B36"},{"key":"2021121011035633900_B37","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1046\/j.1523-1755.1998.06716.x","article-title":"Control of the renal renin system by local factors.","volume":"54","author":"Wagner","year":"1998","journal-title":"Kidney Int Suppl"},{"key":"2021121011035633900_B38","doi-asserted-by":"crossref","first-page":"2420","DOI":"10.1046\/j.1523-1755.2000.00425.x","article-title":"Cyclooxygenase-2 expression is associated with the renal macula densa of patients with Bartter-like syndrome.","volume":"58","author":"Komhoff","year":"2000","journal-title":"Kidney Int"},{"key":"2021121011035633900_B39","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1172\/JCI110915","article-title":"Interaction among prostaglandin E2, antidiuretic hormone and cyclic adenosine monophosphate in modulating Cl absorption in single mouse medullary thick ascending limbs of Henle.","volume":"71","author":"Culpepper","year":"1983","journal-title":"J Clin Invest"},{"key":"2021121011035633900_B40","first-page":"F219","article-title":"Cyclooxygenase inhibitors increase Na-K-2Cl cotransporter abundance in thick ascending limb of Henle's loop.","volume":"277","author":"Fernandez-Llama","year":"1999","journal-title":"Am J Physiol"},{"key":"2021121011035633900_B41","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1097\/00008480-199912000-00014","article-title":"Genetic causes of nonsyndromic hearing loss.","volume":"11","author":"Skvorak Giersch","year":"1999","journal-title":"Curr Opin Pediatr"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/108\/1\/e5\/893491\/e5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/108\/1\/e5\/893491\/e5.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:01:37Z","timestamp":1639180897000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/108\/1\/e5\/66926\/Hypokalemic-Salt-Losing-Tubulopathy-With-Chronic"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,7,1]]},"references-count":41,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2001,7,1]]},"published-print":{"date-parts":[[2001,7,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.108.1.e5","relation":{},"ISSN":["1098-4275","0031-4005"],"issn-type":[{"value":"1098-4275","type":"electronic"},{"value":"0031-4005","type":"print"}],"subject":[],"published":{"date-parts":[[2001,7,1]]}}}