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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Galenos Yayincilik
2021
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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) |
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systemic pseudohypoaldosteronism hyponatremia hyperkalemia metabolic acidosis epithelial sodium channel scnn1b Pediatrics RJ1-570 Diseases of the endocrine glands. Clinical endocrinology RC648-665 |
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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 |
work_keys_str_mv |
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