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

Systemic 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 manageme...

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Autores principales: Gülin Karacan Küçükali, Semra Çetinkaya, Gaffari Tunç, M. Melek Oğuz, Nurullah Çelik, Kardelen Yağmur Akkaş, Saliha Şenel, Naz Güleray Lafcı, Şenay Savaş Erdeve
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Publicado: Galenos Yayincilik 2021
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Acceso en línea:https://doaj.org/article/16f0b1be4f934f21bc9fc972d8e4c382
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spelling oai:doaj.org-article:16f0b1be4f934f21bc9fc972d8e4c3822021-11-26T06:10:17ZClinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review1308-57271308-573510.4274/jcrpe.galenos.2020.2020.0107https://doaj.org/article/16f0b1be4f934f21bc9fc972d8e4c3822021-12-01T00:00:00Z http://www.jcrpe.org/archives/archive-detail/article-preview/clinical-management-in-systemic-type-pseudohypoald/40066 https://doaj.org/toc/1308-5727https://doaj.org/toc/1308-5735Systemic 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.Gülin Karacan KüçükaliSemra ÇetinkayaGaffari TunçM. Melek OğuzNurullah ÇelikKardelen Yağmur AkkaşSaliha ŞenelNaz Güleray LafcıŞenay Savaş ErdeveGalenos Yayincilikarticlesystemic pseudohypoaldosteronismhyponatremiahyperkalemiametabolic acidosisepithelial sodium channelscnn1bPediatricsRJ1-570Diseases of the endocrine glands. Clinical endocrinologyRC648-665ENJCRPE, Vol 13, Iss 4, Pp 446-451 (2021)
institution DOAJ
collection DOAJ
language EN
topic systemic pseudohypoaldosteronism
hyponatremia
hyperkalemia
metabolic acidosis
epithelial sodium channel
scnn1b
Pediatrics
RJ1-570
Diseases of the endocrine glands. Clinical endocrinology
RC648-665
spellingShingle systemic pseudohypoaldosteronism
hyponatremia
hyperkalemia
metabolic acidosis
epithelial sodium channel
scnn1b
Pediatrics
RJ1-570
Diseases of the endocrine glands. Clinical endocrinology
RC648-665
Gülin Karacan Küçükali
Semra Çetinkaya
Gaffari Tunç
M. Melek Oğuz
Nurullah Çelik
Kardelen Yağmur Akkaş
Saliha Şenel
Naz Güleray Lafcı
Şenay Savaş Erdeve
Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
description Systemic 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.
format article
author Gülin Karacan Küçükali
Semra Çetinkaya
Gaffari Tunç
M. Melek Oğuz
Nurullah Çelik
Kardelen Yağmur Akkaş
Saliha Şenel
Naz Güleray Lafcı
Şenay Savaş Erdeve
author_facet Gülin Karacan Küçükali
Semra Çetinkaya
Gaffari Tunç
M. Melek Oğuz
Nurullah Çelik
Kardelen Yağmur Akkaş
Saliha Şenel
Naz Güleray Lafcı
Şenay Savaş Erdeve
author_sort Gülin Karacan Küçükali
title Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
title_short Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
title_full Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
title_fullStr Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
title_full_unstemmed Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
title_sort clinical management in systemic type pseudohypoaldosteronism due to scnn1b variant and literature review
publisher Galenos Yayincilik
publishDate 2021
url https://doaj.org/article/16f0b1be4f934f21bc9fc972d8e4c382
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