Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review

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dc.authorid0000-0003-1583-6807tr
dc.contributor.authorKaracan Küçükali, Gülçin
dc.contributor.authorÇetinkaya, Sema
dc.contributor.authorTunç, Gaffari
dc.contributor.authorOğuz, M. Melek
dc.contributor.authorÇelik, Nurullah
dc.contributor.authorAkkaş, Kardelen Yağmur
dc.contributor.authorŞenel, Salih
dc.contributor.authorNaz, Güleray
dc.contributor.authorErdeve Savaş, Şenay
dc.date.accessioned2022-05-12T07:09:00Z
dc.date.available2022-05-12T07:09:00Z
dc.date.issued2021tr
dc.departmentTıp Fakültesitr
dc.description.abstractSystemic pseudohypoaldosteronism (PHA) is a rare, salt-wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunits. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosterone and renin levels are expected findings in PHA. Clinical management is challenging due to high dose oral replacement therapy. Furthermore, patients with systemic PHA require life-long therapy. Here we report a patient with systemic PHA due to SCNN1B variant whose hyponatremia and hyperkalemia was detected at the 24th hour of life. Hyperkalemia did not improve with conventional treatments and dialysis was required. He also developed myocarditis and hypertension in follow-up. Challenges for diagnosis and treatment in this patient are discussed herein. In addition, published evidence concerning common features of patients with SCNN1B variant are reviewed.tr
dc.description.sponsorshipYoktr
dc.identifier.citationKaracan Küçükali G, Çetinkaya S, Tunç G, Oğuz MM, Çelik N, Akkaş KY, Şenel S, Güleray Lafcı N, Savaş Erdeve Ş. Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review. J Clin Res Pediatr Endocrinol. 2021 Nov 25;13(4):446-451. doi: 10.4274/jcrpe.galenos.2020.2020.0107.tr
dc.identifier.doi10.4274/jcrpe.galenos.2020.2020.0107.en_US
dc.identifier.endpage451tr
dc.identifier.issue4tr
dc.identifier.pmid32840096en_US
dc.identifier.scopus2-s2.0-85122222138en_US
dc.identifier.scopusqualityN/A
dc.identifier.startpage446tr
dc.identifier.urihttps://cms.galenos.com.tr/Uploads/Article_40066/JCRPE-13-446-En.pdf
dc.identifier.urihttps://hdl.handle.net/20.500.12418/12863
dc.identifier.volume13tr
dc.identifier.wosWOS:000734457400011en_US
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Yayıncılıktr
dc.relation.ispartofJ Clin Res Pediatr Endocrinolen_US
dc.relation.publicationcategoryUluslararası Hakemli Dergide Makale - Başka Kurum Yazarıtr
dc.rightsinfo:eu-repo/semantics/openAccesstr
dc.subject: Systemic pseudohypoaldosteronism, hyponatremia, hyperkalemia, metabolic acidosis, epithelial sodium channel, SCNN1Btr
dc.titleClinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Reviewen_US
dc.typeArticleen_US

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