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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-8615950 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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