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Pseudohypoaldosteronism type 1 and respiratory distress syndrome

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dc.contributor.author Akçay, Ahmet
dc.contributor.author Yavuz, T.
dc.contributor.author Semiz, S.
dc.contributor.author Bundak, R.
dc.contributor.author Demirdöven, M.
dc.date.accessioned 2019-08-16T11:46:53Z
dc.date.available 2019-08-16T11:46:53Z
dc.date.issued 2002
dc.identifier.issn 0334-018X
dc.identifier.uri https://hdl.handle.net/11499/5426
dc.identifier.uri https://doi.org/10.1515/JPEM.2002.15.9.1557
dc.description.abstract We 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.language.iso en en_US
dc.publisher Freund Publishing House Ltd en_US
dc.relation.ispartof Journal of Pediatric Endocrinology and Metabolism en_US
dc.rights info:eu-repo/semantics/closedAccess en_US
dc.subject Epithelial sodium channel en_US
dc.subject Hyponatremia en_US
dc.subject Newborn en_US
dc.subject Pseudohypoaldosteronism en_US
dc.subject Respiratory distress syndrome en_US
dc.subject aldosterone en_US
dc.subject amiloride en_US
dc.subject ampicillin en_US
dc.subject bicarbonate en_US
dc.subject cefotaxime en_US
dc.subject electrolyte en_US
dc.subject fludrocortisone en_US
dc.subject gluconate calcium en_US
dc.subject polystyrenesulfonate sodium en_US
dc.subject sodium channel en_US
dc.subject sodium chloride en_US
dc.subject sodium ion en_US
dc.subject surfactant en_US
dc.subject adult en_US
dc.subject aldosterone blood level en_US
dc.subject antibiotic prophylaxis en_US
dc.subject article en_US
dc.subject case report en_US
dc.subject dehydration en_US
dc.subject electrolyte disturbance en_US
dc.subject epithelium cell en_US
dc.subject female en_US
dc.subject gene mutation en_US
dc.subject gestational age en_US
dc.subject human en_US
dc.subject hyperkalemia en_US
dc.subject hyponatremia en_US
dc.subject kidney tubule en_US
dc.subject lung alveolus epithelium en_US
dc.subject male en_US
dc.subject newborn en_US
dc.subject parenteral nutrition en_US
dc.subject pathogenesis en_US
dc.subject prematurity en_US
dc.subject pseudohypoaldosteronism en_US
dc.subject pseudohypoaldosteronism type 1 en_US
dc.subject respiratory distress syndrome en_US
dc.subject sodium absorption en_US
dc.title Pseudohypoaldosteronism type 1 and respiratory distress syndrome en_US
dc.type Article en_US
dc.identifier.volume 15 en_US
dc.identifier.issue 9 en_US
dc.identifier.startpage 1557
dc.identifier.startpage 1557 en_US
dc.identifier.endpage 1561 en_US
dc.identifier.doi 10.1515/JPEM.2002.15.9.1557
dc.relation.publicationcategory Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı en_US
dc.identifier.pmid 12503866 en_US
dc.identifier.scopus 2-s2.0-0036908853 en_US
dc.identifier.wos WOS:000179823400015 en_US

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