A case with pseudohypoaldosteronism type 1 and investigation of molecular genetic etiology

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dc.contributor.authorBolu, Semih
dc.contributor.authorDoğan, Mustafa
dc.contributor.authorEröz, Recep
dc.contributor.authorYüce, Hüseyin
dc.contributor.authorMermerci, Asuman
dc.contributor.authorÖzmerdivenli, Recep
dc.date.accessioned2020-04-30T13:32:03Z
dc.date.available2020-04-30T13:32:03Z
dc.date.issued2017
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractPseudohypoaldosteronism is a salt-wasting pattern that manifests with hyponatremia, hyperkalemia, and metabolic acidosis, and is the result of aldosterone peripheral nonresponse in renal tubule cells. Peripheral resistance development may occur as a result of mutations in the mineralocorticoid receptor or epithelial sodium channel; it can also develop as a secondary to infection, uropathy and receptor resistance due to drug use. Type 1 PHA is inherited as both autosomal dominant (sporadic-renal form) and autosomal recessive (systemic form). Systemic pseudohypoaldosteronism type 1 is autosomal recessive and the most severe form. Loss of function in one of the three subunits of the epithelial sodium channel (EnaC) is responsible for the disease (the alpha subunit (SCNN1A; 12p13), the beta subunit (SCNN1B; 16p12.2-p12.1), and the Gamma subunit (SCNN1G; 16p12). We present a patient who was diagnosed the primary pseudohypoaldosteronism type 1 for contribution to the literature, which is a rare disease and can be confused with other diseases caused by salt loss. © 2017, Duzce University Medical School. All rights reserved.en_US
dc.identifier.endpage88en_US
dc.identifier.issn1307671X
dc.identifier.issue3en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage86en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12684/16
dc.identifier.volume19en_US
dc.indekslendigikaynakScopusen_US
dc.language.isotren_US
dc.publisherDuzce University Medical Schoolen_US
dc.relation.ispartofDüzce Tıp Fakültesi Dergisi
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectNewborn; Pseudohypoaldosteronism type 1; Salt-wastingen_US
dc.titleA case with pseudohypoaldosteronism type 1 and investigation of molecular genetic etiologyen_US
dc.title.alternativePsödohipoaldosteronizm tip 1 tanılı bir olgu ve moleküler genetik etiyolojinin araştırılmasıen_US
dc.typeArticleen_US

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