{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T18:05:50Z","timestamp":1759341950760,"version":"3.40.5"},"reference-count":38,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,3,1]]},"abstract":"\n Objective.<\/jats:title>\n To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period.<\/jats:p>\n <\/jats:sec>\n \n Methods.<\/jats:title>\n Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. Review of the clinical and laboratory findings during pregnancy and the neonatal period in two siblings affected with HPS.<\/jats:p>\n <\/jats:sec>\n \n Results.<\/jats:title>\n Compound heterozygosity of the fetus inKCNJ1 (D74Y\/P110L) confirmed the clinical diagnosis of HPS at 26 weeks of gestation. Indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to the elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur.<\/jats:p>\n <\/jats:sec>\n \n Conclusions.<\/jats:title>\n Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion.hyperprostaglandin E syndrome, Bartter syndrome, ROMK, indomethacin.<\/jats:p>\n <\/jats:sec>","DOI":"10.1542\/peds.103.3.678","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:45:45Z","timestamp":1092440745000},"page":"678-683","source":"Crossref","is-referenced-by-count":43,"title":["Prenatal and Postnatal Management of Hyperprostaglandin E Syndrome After Genetic Diagnosis From Amniocytes"],"prefix":"10.1542","volume":"103","author":[{"given":"Martin","family":"Konrad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Leonhardt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Hensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannsjo\u0308rg W.","family":"Seyberth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold","family":"Ko\u0308ckerling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[1999,3,1]]},"reference":[{"key":"2021121000381876300_B1","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":"2021121000381876300_B2","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":"2021121000381876300_B3","first-page":"95","article-title":"Forme ante\u0301natale du syndrome de Bartter.","volume":"40","author":"Deschenes","year":"1993","journal-title":"Ann Pe\u0301diatr."},{"key":"2021121000381876300_B4"},{"key":"2021121000381876300_B5","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1111\/j.1651-2227.1984.tb17793.x","article-title":"A variant of Bartter's syndrome. 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