Pseudohypoaldosteronism type 1 and respiratory distress syndrome

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dc.authorid0000-0003-0694-9180
dc.authorid0000-0002-1971-4017
dc.authorid0000-0001-5097-6448
dc.authorid0000-0002-1875-2070
dc.contributor.authorAkçay, Ahmet
dc.contributor.authorYavuz, Taner
dc.contributor.authorSemiz, Serap
dc.contributor.authorBundak, Rüveyde
dc.contributor.authorDemirdöven, Mehmet
dc.date.accessioned2021-06-23T19:17:23Z
dc.date.available2021-06-23T19:17:23Z
dc.date.issued2002
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractWe present a patient born at 31 weeks gestation with respiratory distress syndrome (RDS) which did not respond to surfactant. He also developed hyponatremia, hyperkalemia and dehydration with increased sweat electrolytes despite high levels of serum aldosterone, thus systemic pseudohypoaldosteronism type 1 (PHA-1) diagnosis was made. Systemic PHA-1 is caused by mutations of amiloride-sensitive epithelial sodium channel (ENaC) genes. Because ENaC is a rate-limiting step for sodium absorption by epithelial cells, not only of the renal tubule but also of the lung epithelium, patients with PHA-1 with pulmonary symptoms have sometimes been reported. However, our patient appears to be the second reported human case of both neonatal RDS and PHA-1, and the first description, with increased sweat electrolytes, of a premature baby with systemic PHA-1 and RDS.en_US
dc.identifier.endpage1561en_US
dc.identifier.issn0334-018X
dc.identifier.issue9en_US
dc.identifier.pmid12503866en_US
dc.identifier.scopus2-s2.0-0036908853en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1557en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/5390
dc.identifier.uri10.1515/jpem.2002.15.9.1557
dc.identifier.volume15en_US
dc.identifier.wosWOS:000179823400015en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorYavuz, Taner
dc.language.isoenen_US
dc.publisherFreund Publishing House Ltden_US
dc.relation.ispartofJournal Of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectRespiratory Distress Syndromeen_US
dc.subjectPseudohypoaldosteronismen_US
dc.subjectEpithelial Sodium Channelen_US
dc.subjectHyponatremiaen_US
dc.subjectNewbornen_US
dc.titlePseudohypoaldosteronism type 1 and respiratory distress syndromeen_US
dc.typeArticleen_US

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Dahili Tıp Bilimleri Bölümü Koleksiyonu
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