{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:20:56Z","timestamp":1759335656471},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T00:00:00Z","timestamp":1424822400000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,2]]},"abstract":"Abstract<\/jats:title>Congenital nephrotic syndrome (CNS<\/jats:styled-content>) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the F<\/jats:styled-content>innish type of CNS<\/jats:styled-content> (CNF<\/jats:styled-content>), which is caused by mutations in the nephrin gene (NPHS<\/jats:styled-content>1<\/jats:italic>). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS<\/jats:styled-content> with major cardiac malformation is rare. Here we report the case of a T<\/jats:styled-content>urkish child with CNS<\/jats:styled-content> with small indel mutation (c.614_621delCACCCCGG<\/jats:styled-content>insTT<\/jats:styled-content>) in exon 6 of NPHS<\/jats:styled-content>1<\/jats:italic> and also major cardiac malformation who did not develop end\u2010stage renal disease until the age of 5 years.<\/jats:p>","DOI":"10.1111\/ped.12418","type":"journal-article","created":{"date-parts":[[2015,2,25]],"date-time":"2015-02-25T06:13:30Z","timestamp":1424844810000},"page":"177-179","source":"Crossref","is-referenced-by-count":6,"title":["Congenital nephrotic syndrome of NPHS<\/scp>1<\/i> associated with cardiac malformation"],"prefix":"10.1111","volume":"57","author":[{"given":"Berfin","family":"Uysal","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology University of Uludag Bursa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osman","family":"D\u00f6nmez","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology University of Uludag Bursa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fahrettin","family":"Uysal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology University of Uludag Bursa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Okan","family":"Akac\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology University of Uludag Bursa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berna Ayta\u00e7","family":"Vuru\u015fkan","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Uludag Bursa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afig","family":"Berdeli","sequence":"additional","affiliation":[{"name":"Molecular Medicine Laboratory and Stem Cell Department of Ege Health Science Institute Department of Pediatrics University of Ege \u0130zmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.51.5.344"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.14.7962"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670000401"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfn271"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00254.x"},{"key":"e_1_2_6_7_1","first-page":"83","article-title":"Cardiac findings in congenital nephrotic syndrome","volume":"3","author":"Malaki A","year":"2011","journal-title":"J. Cardiovasc. Thorac. Res."},{"key":"e_1_2_6_8_1","first-page":"685","article-title":"Nephroanemic syndrome in young infants (7 cases)","volume":"22","author":"Fournier A","year":"1967","journal-title":"Pediatrie"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2009121309"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.4.379"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr106"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12418","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12418","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12418","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T00:44:56Z","timestamp":1695516296000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1111\/ped.12418"],"URL":"https:\/\/doi.org\/10.1111\/ped.12418","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2]]}}}