[et_pb_section bb_built=\u00a0\u00bb1″ next_background_color=\u00a0\u00bb#000000″ inner_width=\u00a0\u00bbauto\u00a0\u00bb inner_max_width=\u00a0\u00bbnone\u00a0\u00bb][et_pb_row][et_pb_column type=\u00a0\u00bb3_4″][et_pb_text admin_label=\u00a0\u00bbIntro\u00a0\u00bb _builder_version=\u00a0\u00bb3.22.1″ module_id=\u00a0\u00bbintro\u00a0\u00bb text_text_shadow_horizontal_length=\u00a0\u00bbtext_text_shadow_style,%91object Object%93″ text_text_shadow_vertical_length=\u00a0\u00bbtext_text_shadow_style,%91object Object%93″ text_text_shadow_blur_strength=\u00a0\u00bbtext_text_shadow_style,%91object Object%93″ link_text_shadow_horizontal_length=\u00a0\u00bblink_text_shadow_style,%91object Object%93″ link_text_shadow_vertical_length=\u00a0\u00bblink_text_shadow_style,%91object Object%93″ link_text_shadow_blur_strength=\u00a0\u00bblink_text_shadow_style,%91object Object%93″ ul_text_shadow_horizontal_length=\u00a0\u00bbul_text_shadow_style,%91object Object%93″ ul_text_shadow_vertical_length=\u00a0\u00bbul_text_shadow_style,%91object Object%93″ ul_text_shadow_blur_strength=\u00a0\u00bbul_text_shadow_style,%91object Object%93″ ol_text_shadow_horizontal_length=\u00a0\u00bbol_text_shadow_style,%91object Object%93″ ol_text_shadow_vertical_length=\u00a0\u00bbol_text_shadow_style,%91object Object%93″ ol_text_shadow_blur_strength=\u00a0\u00bbol_text_shadow_style,%91object Object%93″ quote_text_shadow_horizontal_length=\u00a0\u00bbquote_text_shadow_style,%91object Object%93″ quote_text_shadow_vertical_length=\u00a0\u00bbquote_text_shadow_style,%91object Object%93″ quote_text_shadow_blur_strength=\u00a0\u00bbquote_text_shadow_style,%91object Object%93″ header_text_shadow_horizontal_length=\u00a0\u00bbheader_text_shadow_style,%91object Object%93″ header_text_shadow_vertical_length=\u00a0\u00bbheader_text_shadow_style,%91object Object%93″ header_text_shadow_blur_strength=\u00a0\u00bbheader_text_shadow_style,%91object Object%93″ header_2_text_shadow_horizontal_length=\u00a0\u00bbheader_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_vertical_length=\u00a0\u00bbheader_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_blur_strength=\u00a0\u00bbheader_2_text_shadow_style,%91object Object%93″ header_3_text_shadow_horizontal_length=\u00a0\u00bbheader_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_vertical_length=\u00a0\u00bbheader_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_blur_strength=\u00a0\u00bbheader_3_text_shadow_style,%91object Object%93″ header_4_text_shadow_horizontal_length=\u00a0\u00bbheader_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_vertical_length=\u00a0\u00bbheader_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_blur_strength=\u00a0\u00bbheader_4_text_shadow_style,%91object Object%93″ header_5_text_shadow_horizontal_length=\u00a0\u00bbheader_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_vertical_length=\u00a0\u00bbheader_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_blur_strength=\u00a0\u00bbheader_5_text_shadow_style,%91object Object%93″ header_6_text_shadow_horizontal_length=\u00a0\u00bbheader_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_vertical_length=\u00a0\u00bbheader_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_blur_strength=\u00a0\u00bbheader_6_text_shadow_style,%91object Object%93″ z_index_tablet=\u00a0\u00bb500″]<\/p>\n
L\u2019hyperaldost\u00e9ronisme primaire est la forme la plus commune d\u2019hypertension art\u00e9rielle secondaire. Son diagnostic pr\u00e9coce a un impact important sur l\u2019issue th\u00e9rapeutique. Les travaux de chercheurs de l\u2019Inserm et de l\u2019Universit\u00e9 Paris Cit\u00e9 au Paris Centre de recherche Cardiovasculaire (PARCC) de l\u2019H\u00f4pital Europ\u00e9en Georges Pompidou, en collaboration avec des \u00e9quipes de l\u2019Universit\u00e9 Queen Mary \u00e0 Londres (Royaume Uni) et de l\u2019Universit\u00e9 nationale de Malaisie \u00e0 Kuala Lumpur (Malaisie), ont d\u00e9couvert des anomalies g\u00e9n\u00e9tiques tout \u00e0 fait particuli\u00e8res chez des patients d\u00e9veloppant un hyperaldost\u00e9ronisme primaire \u00e0 la pubert\u00e9, pendant la grossesse ou autour de la m\u00e9nopause.<\/p>\n<\/div>\n<\/div>\n<\/div>\n
[\/et_pb_text][\/et_pb_column][et_pb_column type=\u00a0\u00bb1_4″][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=\u00a0\u00bb3.19.11″ module_id=\u00a0\u00bbimage-page-type\u00a0\u00bb width=\u00a0\u00bb80%\u00a0\u00bb max_width=\u00a0\u00bb1080px\u00a0\u00bb][et_pb_column type=\u00a0\u00bb3_4″][et_pb_image admin_label=\u00a0\u00bbImage 1920 x 1080″ _builder_version=\u00a0\u00bb3.22.1″ src=\u00a0\u00bbhttps:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-content\/uploads\/sites\/19\/2021\/09\/recher-1.jpg\u00a0\u00bb module_id=\u00a0\u00bbimage-page\u00a0\u00bb z_index_tablet=\u00a0\u00bb500″ \/][\/et_pb_column][et_pb_column type=\u00a0\u00bb1_4″][et_pb_text admin_label=\u00a0\u00bbTexte image\u00a0\u00bb _builder_version=\u00a0\u00bb3.22.1″ module_id=\u00a0\u00bbtexte-image\u00a0\u00bb custom_margin=\u00a0\u00bb|-15px||\u00a0\u00bb text_text_shadow_horizontal_length=\u00a0\u00bbtext_text_shadow_style,%91object Object%93″ text_text_shadow_vertical_length=\u00a0\u00bbtext_text_shadow_style,%91object Object%93″ text_text_shadow_blur_strength=\u00a0\u00bbtext_text_shadow_style,%91object Object%93″ link_text_shadow_horizontal_length=\u00a0\u00bblink_text_shadow_style,%91object Object%93″ link_text_shadow_vertical_length=\u00a0\u00bblink_text_shadow_style,%91object Object%93″ link_text_shadow_blur_strength=\u00a0\u00bblink_text_shadow_style,%91object Object%93″ ul_text_shadow_horizontal_length=\u00a0\u00bbul_text_shadow_style,%91object Object%93″ ul_text_shadow_vertical_length=\u00a0\u00bbul_text_shadow_style,%91object Object%93″ ul_text_shadow_blur_strength=\u00a0\u00bbul_text_shadow_style,%91object Object%93″ ol_text_shadow_horizontal_length=\u00a0\u00bbol_text_shadow_style,%91object Object%93″ ol_text_shadow_vertical_length=\u00a0\u00bbol_text_shadow_style,%91object Object%93″ ol_text_shadow_blur_strength=\u00a0\u00bbol_text_shadow_style,%91object Object%93″ quote_text_shadow_horizontal_length=\u00a0\u00bbquote_text_shadow_style,%91object Object%93″ quote_text_shadow_vertical_length=\u00a0\u00bbquote_text_shadow_style,%91object Object%93″ quote_text_shadow_blur_strength=\u00a0\u00bbquote_text_shadow_style,%91object Object%93″ header_text_shadow_horizontal_length=\u00a0\u00bbheader_text_shadow_style,%91object Object%93″ header_text_shadow_vertical_length=\u00a0\u00bbheader_text_shadow_style,%91object Object%93″ header_text_shadow_blur_strength=\u00a0\u00bbheader_text_shadow_style,%91object Object%93″ header_2_text_shadow_horizontal_length=\u00a0\u00bbheader_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_vertical_length=\u00a0\u00bbheader_2_text_shadow_style,%91object Object%93″ header_2_text_shadow_blur_strength=\u00a0\u00bbheader_2_text_shadow_style,%91object Object%93″ header_3_text_shadow_horizontal_length=\u00a0\u00bbheader_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_vertical_length=\u00a0\u00bbheader_3_text_shadow_style,%91object Object%93″ header_3_text_shadow_blur_strength=\u00a0\u00bbheader_3_text_shadow_style,%91object Object%93″ header_4_text_shadow_horizontal_length=\u00a0\u00bbheader_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_vertical_length=\u00a0\u00bbheader_4_text_shadow_style,%91object Object%93″ header_4_text_shadow_blur_strength=\u00a0\u00bbheader_4_text_shadow_style,%91object Object%93″ header_5_text_shadow_horizontal_length=\u00a0\u00bbheader_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_vertical_length=\u00a0\u00bbheader_5_text_shadow_style,%91object Object%93″ header_5_text_shadow_blur_strength=\u00a0\u00bbheader_5_text_shadow_style,%91object Object%93″ header_6_text_shadow_horizontal_length=\u00a0\u00bbheader_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_vertical_length=\u00a0\u00bbheader_6_text_shadow_style,%91object Object%93″ header_6_text_shadow_blur_strength=\u00a0\u00bbheader_6_text_shadow_style,%91object Object%93″ z_index_tablet=\u00a0\u00bb500″]<\/p>\n
Sch\u00e9ma simplifi\u00e9 des cons\u00e9quences, dans un ad\u00e9nome produisant de l\u2019aldost\u00e9rone, de la pr\u00e9sence \u00e0 la fois d\u2019une mutation de la b-catenine et des sous-unit\u00e9s G alpha-11 ou G alpha-q. L\u2019augmentation de l\u2019expression de LHCGR (r\u00e9cepteur \u00e0 la LH et \u00e0 l\u2019HCG) pourrait expliquer le d\u00e9veloppement de l\u2019hyperaldost\u00e9ronisme \u00e0 la pubert\u00e9, pendant la grossesse ou autour de la m\u00e9nopause.<\/p>\n<\/div>\n<\/div>\n<\/div>\n
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Ces travaux sugg\u00e8rent qu\u2019il faut rechercher un hyperaldost\u00e9ronisme primaire chez des patients pr\u00e9sentant une hypertension art\u00e9rielle notamment pendant la pubert\u00e9 et la grossesse, permettant ainsi un diagnostic rapide et la proposition d\u2019un traitement curatif par ablation de la surr\u00e9nale atteinte.<\/p>\n
L\u2019hypertension art\u00e9rielle est un facteur de risque cardiovasculaire majeur. Bien qu\u2019il existe un large arsenal th\u00e9rapeutique, le contr\u00f4le optimal de la pression art\u00e9rielle n\u2019est pas atteint chez quasiment deux tiers des patients. L\u2019identification des formes secondaires d\u2019hypertension art\u00e9rielle est essentielle pour une meilleure prise en charge des patients hypertendus et la pr\u00e9vention des complications cardiovasculaires.<\/p>\n
L\u2019hyperaldost\u00e9ronisme primaire est la forme la plus commune d\u2019hypertension art\u00e9rielle secondaire avec une pr\u00e9valence e 6 \u00e0 20% des patients hypertendus. Les ad\u00e9nomes produisant de l\u2019aldost\u00e9rone et l\u2019hyperplasie bilat\u00e9rales des surr\u00e9nales sont responsables de la quasi-totalit\u00e9 des cas d\u2019hyperaldost\u00e9ronisme primaire. Le diagnostic pr\u00e9coce d\u2019hyperaldost\u00e9ronisme primaire a un impact tr\u00e8s important sur l\u2019issue th\u00e9rapeutique et la survie, \u00e9tant donn\u00e9 les effets cardiovasculaires d\u00e9l\u00e9t\u00e8res propres \u00e0 l\u2019exc\u00e8s d\u2019aldost\u00e9rone. Les cons\u00e9quences \u00e0 long terme incluent une augmentation du risque d\u2019infarctus du myocarde, d\u2019accident vasculaire c\u00e9r\u00e9bral et de fibrillation auriculaire.<\/p>\n
Ces derni\u00e8res ann\u00e9es des avanc\u00e9es majeures ont \u00e9t\u00e9 faites dans la compr\u00e9hension des bases g\u00e9n\u00e9tiques de l\u2019hyperaldost\u00e9ronisme primaire avec l\u2019identification de mutations somatiques r\u00e9currentes dans les ad\u00e9nomes produisant l\u2019aldost\u00e9rone, touchant des g\u00e8nes codant pour des canaux ioniques et des ATPases qui r\u00e9gulent l\u2019hom\u00e9ostasie ionique intracellulaire et le potentiel de membrane.<\/p>\n
La nouvelle \u00e9tude men\u00e9e par les chercheurs Inserm Maria-Christina Zennaro, Sheerazed Boulkroun et Fabio Luiz Fernandes-Rosa au PARCC (Inserm\/Universit\u00e9 Paris Cit\u00e9), en collaboration avec des \u00e9quipes de l\u2019Universit\u00e9 Queen Mary au Royaume Uni, de l\u2019Universit\u00e9 Nationale de Malaisie et de l\u2019Universit\u00e9 d\u2019Uppsala en Su\u00e8de s\u2019est int\u00e9ress\u00e9e aux m\u00e9canismes sous-jacents \u00e0 la manifestation d\u2019un hyperaldost\u00e9ronisme au moment de la pubert\u00e9, de la grossesse ou de la m\u00e9nopause.<\/p>\n
Dans ce travail, les chercheuses et chercheurs ont r\u00e9alis\u00e9es un s\u00e9quen\u00e7age d\u2019exome entier \u00e0 partir de 41 ad\u00e9nomes produisant de l\u2019aldost\u00e9rone afin d\u2019identifier les alt\u00e9rations g\u00e9n\u00e9tiques responsables du d\u00e9veloppement de l\u2019hyperaldost\u00e9ronisme primaire. L\u2019id\u00e9e \u00e9tait d\u2019identifier d\u2019\u00e9ventuelles nouvelles alt\u00e9rations g\u00e9n\u00e9tiques impliqu\u00e9es dans cette pathologie pouvant \u00eatre associ\u00e9es \u00e0 une pr\u00e9sentation clinique ou biochimique particuli\u00e8re.<\/p>\n
Ils ont ainsi dans un premier temps identifi\u00e9, dans 3 tumeurs, d\u2019une part une mutation du g\u00e8ne CTNNB1<\/em> qui code pour la b-catenine et d\u2019autre part une mutation dans le g\u00e8ne GNA11<\/em> qui code pour la prot\u00e9ine G alpha-11, une sous-unit\u00e9 des prot\u00e9ines G liant la guanine. Parmi les 27 tumeurs porteuses d\u2019une mutation du g\u00e8ne CTNNB1<\/em> des cohortes de patients anglais\/irlandais, fran\u00e7ais et su\u00e9dois, 16 \u00e9taient porteuses d\u2019une mutation du g\u00e8ne GNA11<\/em> ou de son homologue GNAQ<\/em>. De fa\u00e7on int\u00e9ressante, parmi les 16 patients 15 \u00e9taient des femmes chez qui l\u2019hyperaldost\u00e9ronisme primaire avaient \u00e9t\u00e9 diagnostiqu\u00e9 \u00e0 la pubert\u00e9, lors d\u2019une grossesse ou de la m\u00e9nopause\u00a0; le 16\u00e8me<\/sup> patient \u00e9tait un jeune gar\u00e7on pub\u00e8re.<\/p>\n Ils ont ensuite montr\u00e9 que la pr\u00e9sence de ces mutations r\u00e9sultait en une augmentation de la production d\u2019aldost\u00e9rone et \u00e9tait associ\u00e9e \u00e0 un profil d\u2019expression g\u00e9nique particulier avec, de fa\u00e7on remarquable, une augmentation de l\u2019expression du r\u00e9cepteur \u00e0 la LH (hormone lut\u00e9inisante) et \u00e0 l\u2019HCG (hormone Chorionique Gonadotrope), LHCGR, profil pouvant expliquer l\u2019apparition des ad\u00e9nomes lors de pics hormonaux de LH ou HCG.<\/p>\n Les implications cliniques de ces travaux sont importantes puisqu\u2019ils sugg\u00e8rent fortement qu\u2019il faut rechercher un hyperaldost\u00e9ronisme primaire chez des patients jeunes pr\u00e9sentant une hypertension art\u00e9rielle pendant la pubert\u00e9 ou la grossesse, permettant ainsi un diagnostic rapide et la proposition d\u2019un traitement curatif par ablation de la surr\u00e9nale atteinte.<\/p>\n R\u00e9f\u00e9rences<\/strong><\/p>\n Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause<\/em><\/strong> \u2013 Zhou, J. et al. Nature Genetics, September 2021<\/em><\/p>\n \u00a0<\/p>\n DOI: 10.1038\/s41588-021-00906-y<\/p>\n [\/et_pb_text][\/et_pb_column][et_pb_column type=\u00a0\u00bb1_4″][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section bb_built=\u00a0\u00bb1″ specialty=\u00a0\u00bboff\u00a0\u00bb _builder_version=\u00a0\u00bb3.21″ custom_padding=\u00a0\u00bb0px||0px|\u00a0\u00bb prev_background_color=\u00a0\u00bb#000000″ inner_width=\u00a0\u00bbauto\u00a0\u00bb inner_max_width=\u00a0\u00bbnone\u00a0\u00bb][et_pb_row _builder_version=\u00a0\u00bb3.19.11″ width=\u00a0\u00bb80%\u00a0\u00bb max_width=\u00a0\u00bb1080px\u00a0\u00bb][et_pb_column type=\u00a0\u00bb4_4″][et_pb_text admin_label=\u00a0\u00bb\u00c0 lire aussi\u00a0\u00bb _builder_version=\u00a0\u00bb3.21″]<\/p>\n [\/et_pb_text][et_pb_blog _builder_version=\u00a0\u00bb3.21″ posts_number=\u00a0\u00bb4″ include_categories=\u00a0\u00bb13″ show_author=\u00a0\u00bboff\u00a0\u00bb show_date=\u00a0\u00bboff\u00a0\u00bb show_pagination=\u00a0\u00bboff\u00a0\u00bb border_width_bottom_fullwidth=\u00a0\u00bb1px\u00a0\u00bb border_color_bottom_fullwidth=\u00a0\u00bbrgba(51,51,51,0.18)\u00a0\u00bb custom_padding=\u00a0\u00bb||50px|\u00a0\u00bb module_id=\u00a0\u00bbpage_type_blog\u00a0\u00bb header_level=\u00a0\u00bbh4″ \/][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":" L\u2019hyperaldost\u00e9ronisme primaire est la forme la plus commune d\u2019hypertension art\u00e9rielle secondaire. Son diagnostic pr\u00e9coce a un impact important sur l\u2019issue th\u00e9rapeutique. Les travaux de chercheurs de l\u2019Inserm et de l\u2019Universit\u00e9 Paris Cit\u00e9 au Paris Centre de recherche Cardiovasculaire (PARCC) de l\u2019H\u00f4pital Europ\u00e9en Georges Pompidou, en collaboration avec des \u00e9quipes de l\u2019Universit\u00e9 Queen Mary \u00e0… Lire la suite Identification d\u2019anomalies g\u00e9n\u00e9tiques chez des patients d\u00e9veloppant un hyperaldost\u00e9ronisme \u00e0 la pubert\u00e9, pendant la grossesse ou autour de la m\u00e9nopause<\/span><\/a><\/p>\n","protected":false},"author":113,"featured_media":8412,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[1,17],"tags":[],"class_list":["post-8405","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-faculte-de-sante","category-recherche"],"_links":{"self":[{"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/posts\/8405","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/users\/113"}],"replies":[{"embeddable":true,"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/comments?post=8405"}],"version-history":[{"count":5,"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/posts\/8405\/revisions"}],"predecessor-version":[{"id":8415,"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/posts\/8405\/revisions\/8415"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/media\/8412"}],"wp:attachment":[{"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/media?parent=8405"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/categories?post=8405"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/wordpress-test.app.u-pariscite.fr\/sante\/wp-json\/wp\/v2\/tags?post=8405"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}\u00c0<\/span> lire aussi<\/h2>\n