Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism

Araujo Castro, Marta; Parra, Paola; Martín Rojas-Marcos, Patricia; Paja Fano, Miguel; González Boillos, Marga; Pascual Corrales, Eider; García Cano, Ana María; Ruiz Sanchez, Jorge Gabriel; Vicente Delgado, Almudena; Gómez Hoyos, Emilia; Ferreira da Silva, Rui Emanuel; García Sanz, Iñigo; Recasens Sala, Mònica; Barahona San Millan, Rebeca; Picón César, María José; Díaz Guardiola, Patricia; Perdomo, Carolina M.; Manjón Miguélez, Laura; García Centeno, Rogelio; Rebollo Román, Ángel; Gracia Gimeno, Paola; Robles Lázaro, Cristina; Morales Ruiz, Manuel; Calatayud, María; Furio Collao, Simone Andree; Meneses, Diego; Sampedro Núñez, Miguel Antonio; Escudero Quesada, Verónica; Mena Ribas, Elena; Sanmartín Sánchez, Alicia; Gonzalvo Diaz, Cesar; Lamas, Cristina; del Castillo Tous, María; Serrano Gotarredona, Joaquín; Michalopoulou Alevras, Theodora; Moya Mateo, Eva María; Hanzu, Felicia A.

Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism

Purpose: To compare the clinical and hormonal characteristics of patients with familial hyperaldosteronism (FH) and sporadic primary aldosteronism (PA). Methods: A systematic review of the literature was performed for the identification of FH patients. The SPAIN-ALDO registry cohort of patients with...

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Autores:	Araujo Castro, Marta, Parra, Paola, Martín Rojas-Marcos, Patricia, Paja Fano, Miguel, González Boillos, Marga, Pascual Corrales, Eider, García Cano, Ana María, Ruiz Sanchez, Jorge Gabriel, Vicente Delgado, Almudena, Gómez Hoyos, Emilia, Ferreira da Silva, Rui Emanuel, García Sanz, Iñigo, Recasens Sala, Mònica, Barahona San Millan, Rebeca, Picón César, María José, Díaz Guardiola, Patricia, Perdomo, Carolina M., Manjón Miguélez, Laura, García Centeno, Rogelio, Rebollo Román, Ángel, Gracia Gimeno, Paola, Robles Lázaro, Cristina, Morales Ruiz, Manuel, Calatayud, María, Furio Collao, Simone Andree, Meneses, Diego, Sampedro Núñez, Miguel Antonio, Escudero Quesada, Verónica, Mena Ribas, Elena, Sanmartín Sánchez, Alicia, Gonzalvo Diaz, Cesar, Lamas, Cristina, del Castillo Tous, María, Serrano Gotarredona, Joaquín, Michalopoulou Alevras, Theodora, Moya Mateo, Eva María, Hanzu, Felicia A.
Tipo de recurso:	artículo
Fecha de publicación:	2024
País:	España
Institución:	Universidad Autónoma de Madrid
Repositorio:	Biblos-e Archivo. Repositorio Institucional de la UAM
Idioma:	inglés
OAI Identifier:	oai:repositorio.uam.es:10486/715056
Acceso en línea:	http://hdl.handle.net/10486/715056 https://dx.doi.org/10.3389/fendo.2024.1336306
Access Level:	acceso abierto
Palabra clave:	familial hyperaldosteronism genetic study pathogenic variant plasma aldosterone concentration primary aldosteronism Medicina

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spelling	Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronismAraujo Castro, MartaParra, PaolaMartín Rojas-Marcos, PatriciaPaja Fano, MiguelGonzález Boillos, MargaPascual Corrales, EiderGarcía Cano, Ana MaríaRuiz Sanchez, Jorge GabrielVicente Delgado, AlmudenaGómez Hoyos, EmiliaFerreira da Silva, Rui EmanuelGarcía Sanz, IñigoRecasens Sala, MònicaBarahona San Millan, RebecaPicón César, María JoséDíaz Guardiola, PatriciaPerdomo, Carolina M.Manjón Miguélez, LauraGarcía Centeno, RogelioRebollo Román, ÁngelGracia Gimeno, PaolaRobles Lázaro, CristinaMorales Ruiz, ManuelCalatayud, MaríaFurio Collao, Simone AndreeMeneses, DiegoSampedro Núñez, Miguel AntonioEscudero Quesada, VerónicaMena Ribas, ElenaSanmartín Sánchez, AliciaGonzalvo Diaz, CesarLamas, Cristinadel Castillo Tous, MaríaSerrano Gotarredona, JoaquínMichalopoulou Alevras, TheodoraMoya Mateo, Eva MaríaHanzu, Felicia A.familial hyperaldosteronismgenetic studypathogenic variantplasma aldosterone concentrationprimary aldosteronismMedicinaPurpose: To compare the clinical and hormonal characteristics of patients with familial hyperaldosteronism (FH) and sporadic primary aldosteronism (PA). Methods: A systematic review of the literature was performed for the identification of FH patients. The SPAIN-ALDO registry cohort of patients with no suspicion of FH was chosen as the comparator group (sporadic group). Results: A total of 360 FH (246 FH type I, 73 type II, 29 type III, and 12 type IV) cases and 830 sporadic PA patients were included. Patients with FH-I were younger than sporadic cases, and women were more commonly affected (P = 0.003). In addition, the plasma aldosterone concentration (PAC) was lower, plasma renin activity (PRA) higher, and hypokalemia (P < 0.001) less frequent than in sporadic cases. Except for a younger age (P < 0.001) and higher diastolic blood pressure (P = 0.006), the clinical and hormonal profiles of FH-II and sporadic cases were similar. FH-III had a distinct phenotype, with higher PAC and higher frequency of hypokalemia (P < 0.001), and presented 45 years before sporadic cases. Nevertheless, the clinical and hormonal phenotypes of FH-IV and sporadic cases were similar, with the former being younger and having lower serum potassium levels. Conclusion: In addition to being younger and having a family history of PA, FH-I and III share other typical characteristics. In this regard, FH-I is characterized by a low prevalence of hypokalemia and FH-III by a severe aldosterone excess causing hypokalemia in more than 85% of patients. The clinical and hormonal phenotype of type II and IV is similar to the sporadic casesFrontiers MediaDepartamento de MedicinaFacultad de Medicina20242024-01-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10486/715056https://dx.doi.org/10.3389/fendo.2024.1336306reponame:Biblos-e Archivo. Repositorio Institucional de la UAMinstname:Universidad Autónoma de MadridInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositorio.uam.es:10486/7150562026-06-23T12:46:27Z
dc.title.none.fl_str_mv	Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism
title	Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism
spellingShingle	Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism Araujo Castro, Marta familial hyperaldosteronism genetic study pathogenic variant plasma aldosterone concentration primary aldosteronism Medicina
title_short	Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism
title_full	Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism
title_fullStr	Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism
title_full_unstemmed	Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism
title_sort	Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism
dc.creator.none.fl_str_mv	Araujo Castro, Marta Parra, Paola Martín Rojas-Marcos, Patricia Paja Fano, Miguel González Boillos, Marga Pascual Corrales, Eider García Cano, Ana María Ruiz Sanchez, Jorge Gabriel Vicente Delgado, Almudena Gómez Hoyos, Emilia Ferreira da Silva, Rui Emanuel García Sanz, Iñigo Recasens Sala, Mònica Barahona San Millan, Rebeca Picón César, María José Díaz Guardiola, Patricia Perdomo, Carolina M. Manjón Miguélez, Laura García Centeno, Rogelio Rebollo Román, Ángel Gracia Gimeno, Paola Robles Lázaro, Cristina Morales Ruiz, Manuel Calatayud, María Furio Collao, Simone Andree Meneses, Diego Sampedro Núñez, Miguel Antonio Escudero Quesada, Verónica Mena Ribas, Elena Sanmartín Sánchez, Alicia Gonzalvo Diaz, Cesar Lamas, Cristina del Castillo Tous, María Serrano Gotarredona, Joaquín Michalopoulou Alevras, Theodora Moya Mateo, Eva María Hanzu, Felicia A.
author	Araujo Castro, Marta
author_facet	Araujo Castro, Marta Parra, Paola Martín Rojas-Marcos, Patricia Paja Fano, Miguel González Boillos, Marga Pascual Corrales, Eider García Cano, Ana María Ruiz Sanchez, Jorge Gabriel Vicente Delgado, Almudena Gómez Hoyos, Emilia Ferreira da Silva, Rui Emanuel García Sanz, Iñigo Recasens Sala, Mònica Barahona San Millan, Rebeca Picón César, María José Díaz Guardiola, Patricia Perdomo, Carolina M. Manjón Miguélez, Laura García Centeno, Rogelio Rebollo Román, Ángel Gracia Gimeno, Paola Robles Lázaro, Cristina Morales Ruiz, Manuel Calatayud, María Furio Collao, Simone Andree Meneses, Diego Sampedro Núñez, Miguel Antonio Escudero Quesada, Verónica Mena Ribas, Elena Sanmartín Sánchez, Alicia Gonzalvo Diaz, Cesar Lamas, Cristina del Castillo Tous, María Serrano Gotarredona, Joaquín Michalopoulou Alevras, Theodora Moya Mateo, Eva María Hanzu, Felicia A.
author_role	author
author2	Parra, Paola Martín Rojas-Marcos, Patricia Paja Fano, Miguel González Boillos, Marga Pascual Corrales, Eider García Cano, Ana María Ruiz Sanchez, Jorge Gabriel Vicente Delgado, Almudena Gómez Hoyos, Emilia Ferreira da Silva, Rui Emanuel García Sanz, Iñigo Recasens Sala, Mònica Barahona San Millan, Rebeca Picón César, María José Díaz Guardiola, Patricia Perdomo, Carolina M. Manjón Miguélez, Laura García Centeno, Rogelio Rebollo Román, Ángel Gracia Gimeno, Paola Robles Lázaro, Cristina Morales Ruiz, Manuel Calatayud, María Furio Collao, Simone Andree Meneses, Diego Sampedro Núñez, Miguel Antonio Escudero Quesada, Verónica Mena Ribas, Elena Sanmartín Sánchez, Alicia Gonzalvo Diaz, Cesar Lamas, Cristina del Castillo Tous, María Serrano Gotarredona, Joaquín Michalopoulou Alevras, Theodora Moya Mateo, Eva María Hanzu, Felicia A.
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Departamento de Medicina Facultad de Medicina
dc.subject.none.fl_str_mv	familial hyperaldosteronism genetic study pathogenic variant plasma aldosterone concentration primary aldosteronism Medicina
topic	familial hyperaldosteronism genetic study pathogenic variant plasma aldosterone concentration primary aldosteronism Medicina
description	Purpose: To compare the clinical and hormonal characteristics of patients with familial hyperaldosteronism (FH) and sporadic primary aldosteronism (PA). Methods: A systematic review of the literature was performed for the identification of FH patients. The SPAIN-ALDO registry cohort of patients with no suspicion of FH was chosen as the comparator group (sporadic group). Results: A total of 360 FH (246 FH type I, 73 type II, 29 type III, and 12 type IV) cases and 830 sporadic PA patients were included. Patients with FH-I were younger than sporadic cases, and women were more commonly affected (P = 0.003). In addition, the plasma aldosterone concentration (PAC) was lower, plasma renin activity (PRA) higher, and hypokalemia (P < 0.001) less frequent than in sporadic cases. Except for a younger age (P < 0.001) and higher diastolic blood pressure (P = 0.006), the clinical and hormonal profiles of FH-II and sporadic cases were similar. FH-III had a distinct phenotype, with higher PAC and higher frequency of hypokalemia (P < 0.001), and presented 45 years before sporadic cases. Nevertheless, the clinical and hormonal phenotypes of FH-IV and sporadic cases were similar, with the former being younger and having lower serum potassium levels. Conclusion: In addition to being younger and having a family history of PA, FH-I and III share other typical characteristics. In this regard, FH-I is characterized by a low prevalence of hypokalemia and FH-III by a severe aldosterone excess causing hypokalemia in more than 85% of patients. The clinical and hormonal phenotype of type II and IV is similar to the sporadic cases
publishDate	2024
dc.date.none.fl_str_mv	2024 2024-01-01
dc.type.none.fl_str_mv	research article http://purl.org/coar/resource_type/c_2df8fbb1 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	http://hdl.handle.net/10486/715056 https://dx.doi.org/10.3389/fendo.2024.1336306
url	http://hdl.handle.net/10486/715056 https://dx.doi.org/10.3389/fendo.2024.1336306
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
dc.rights.none.fl_str_mv	open access http://purl.org/coar/access_right/c_abf2 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv	info:eu-repo/semantics/openAccess
rights_invalid_str_mv	open access http://purl.org/coar/access_right/c_abf2 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.publisher.none.fl_str_mv	Frontiers Media
publisher.none.fl_str_mv	Frontiers Media
dc.source.none.fl_str_mv	reponame:Biblos-e Archivo. Repositorio Institucional de la UAM instname:Universidad Autónoma de Madrid
instname_str	Universidad Autónoma de Madrid
reponame_str	Biblos-e Archivo. Repositorio Institucional de la UAM
collection	Biblos-e Archivo. Repositorio Institucional de la UAM
repository.name.fl_str_mv
repository.mail.fl_str_mv
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Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism

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