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Progress on Genetic Basis of Primary Aldosteronism

Primary aldosteronism (PA) is a heterogeneous group of disorders caused by the autonomous overproduction of aldosterone with simultaneous suppression of plasma renin activity (PRA). It is considered to be the most common endocrine cause of secondary arterial hypertension (HT) and is associated with...

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Autores principales: Karwacka, Izabela, Obołończyk, Łukasz, Kaniuka-Jakubowska, Sonia, Bohdan, Michał, Sworczak, Krzysztof
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615950/
https://www.ncbi.nlm.nih.gov/pubmed/34829937
http://dx.doi.org/10.3390/biomedicines9111708
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author Karwacka, Izabela
Obołończyk, Łukasz
Kaniuka-Jakubowska, Sonia
Bohdan, Michał
Sworczak, Krzysztof
author_facet Karwacka, Izabela
Obołończyk, Łukasz
Kaniuka-Jakubowska, Sonia
Bohdan, Michał
Sworczak, Krzysztof
author_sort Karwacka, Izabela
collection PubMed
description Primary aldosteronism (PA) is a heterogeneous group of disorders caused by the autonomous overproduction of aldosterone with simultaneous suppression of plasma renin activity (PRA). It is considered to be the most common endocrine cause of secondary arterial hypertension (HT) and is associated with a high rate of cardiovascular complications. PA is most often caused by a bilateral adrenal hyperplasia (BAH) or aldosterone-producing adenoma (APA); rarer causes of PA include genetic disorders of steroidogenesis (familial hyperaldosteronism (FA) type I, II, III and IV), aldosterone-producing adrenocortical carcinoma, and ectopic aldosterone-producing tumors. Over the last few years, significant progress has been made towards understanding the genetic basis of PA, classifying it as a channelopathy. Recently, a growing body of clinical evidence suggests that mutations in ion channels appear to be the major cause of aldosterone-producing adenomas, and several mutations within the ion channel encoding genes have been identified. Somatic mutations in four genes (KCNJ5, ATP1A1, ATP2B3 and CACNA1D) have been identified in nearly 60% of the sporadic APAs, while germline mutations in KCNJ5 and CACNA1H have been reported in different subtypes of familial hyperaldosteronism. These new insights into the molecular mechanisms underlying PA may be associated with potential implications for diagnosis and therapy.
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spelling pubmed-86159502021-11-26 Progress on Genetic Basis of Primary Aldosteronism Karwacka, Izabela Obołończyk, Łukasz Kaniuka-Jakubowska, Sonia Bohdan, Michał Sworczak, Krzysztof Biomedicines Review Primary aldosteronism (PA) is a heterogeneous group of disorders caused by the autonomous overproduction of aldosterone with simultaneous suppression of plasma renin activity (PRA). It is considered to be the most common endocrine cause of secondary arterial hypertension (HT) and is associated with a high rate of cardiovascular complications. PA is most often caused by a bilateral adrenal hyperplasia (BAH) or aldosterone-producing adenoma (APA); rarer causes of PA include genetic disorders of steroidogenesis (familial hyperaldosteronism (FA) type I, II, III and IV), aldosterone-producing adrenocortical carcinoma, and ectopic aldosterone-producing tumors. Over the last few years, significant progress has been made towards understanding the genetic basis of PA, classifying it as a channelopathy. Recently, a growing body of clinical evidence suggests that mutations in ion channels appear to be the major cause of aldosterone-producing adenomas, and several mutations within the ion channel encoding genes have been identified. Somatic mutations in four genes (KCNJ5, ATP1A1, ATP2B3 and CACNA1D) have been identified in nearly 60% of the sporadic APAs, while germline mutations in KCNJ5 and CACNA1H have been reported in different subtypes of familial hyperaldosteronism. These new insights into the molecular mechanisms underlying PA may be associated with potential implications for diagnosis and therapy. MDPI 2021-11-17 /pmc/articles/PMC8615950/ /pubmed/34829937 http://dx.doi.org/10.3390/biomedicines9111708 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Karwacka, Izabela
Obołończyk, Łukasz
Kaniuka-Jakubowska, Sonia
Bohdan, Michał
Sworczak, Krzysztof
Progress on Genetic Basis of Primary Aldosteronism
title Progress on Genetic Basis of Primary Aldosteronism
title_full Progress on Genetic Basis of Primary Aldosteronism
title_fullStr Progress on Genetic Basis of Primary Aldosteronism
title_full_unstemmed Progress on Genetic Basis of Primary Aldosteronism
title_short Progress on Genetic Basis of Primary Aldosteronism
title_sort progress on genetic basis of primary aldosteronism
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615950/
https://www.ncbi.nlm.nih.gov/pubmed/34829937
http://dx.doi.org/10.3390/biomedicines9111708
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