{"id":81352,"date":"2026-04-22T15:50:27","date_gmt":"2026-04-22T13:50:27","guid":{"rendered":"https:\/\/cri1149.fr\/?p=81352"},"modified":"2026-04-22T15:52:48","modified_gmt":"2026-04-22T13:52:48","slug":"une-mutation-du-gene-dkc1-associee-a-une-fibrose-pulmonaire-severe-chez-ladulte","status":"publish","type":"post","link":"https:\/\/cri1149.fr\/en\/actualites\/actualites-du-mois\/une-mutation-du-gene-dkc1-associee-a-une-fibrose-pulmonaire-severe-chez-ladulte\/","title":{"rendered":"Une mutation du g\u00e8ne DKC1 associ\u00e9e \u00e0 une fibrose pulmonaire s\u00e9v\u00e8re chez l\u2019adulte"},"content":{"rendered":"\n<p>Cet article de l&#8217;\u00e9quipe <a href=\"https:\/\/cri1149.fr\/equipes\/mailleux-crestani\/\">Mailleux\/Crestani<\/a> s\u2019int\u00e9resse \u00e0 des patients adultes porteurs de mutations du g\u00e8ne\u00a0<em>DKC1<\/em>, un g\u00e8ne important pour la stabilit\u00e9 des cellules et le maintien des t\u00e9lom\u00e8res. Les auteurs montrent que ces mutations peuvent \u00eatre associ\u00e9es \u00e0 une\u00a0<strong>maladie pulmonaire interstitielle<\/strong>\u00a0grave, souvent diagnostiqu\u00e9e relativement t\u00f4t, et dont l\u2019\u00e9volution est g\u00e9n\u00e9ralement d\u00e9favorable.<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?Db=pubmed&amp;Cmd=ShowDetailView&amp;TermToSearch=31130511\" target=\"_blank\" rel=\"noreferrer noopener\"><\/a><\/p>\n\n\n\n<p>Le point marquant est que la maladie ne touche pas seulement les poumons. Les patients pr\u00e9sentent souvent aussi des signes visibles sur la peau, les ongles, les cheveux, la bouche ou les dents, ce qui peut aider \u00e0 suspecter le diagnostic plus t\u00f4t. Dans l\u2019\u00e9tude, plusieurs patients avaient \u00e9galement des anomalies du sang, sugg\u00e9rant que l\u2019atteinte peut \u00eatre plus large qu\u2019une simple maladie pulmonaire.<a rel=\"noreferrer noopener\" target=\"_blank\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?Db=pubmed&amp;Cmd=ShowDetailView&amp;TermToSearch=31130511\"><\/a><\/p>\n\n\n\n<p>En pratique, l\u2019article souligne l\u2019importance de penser \u00e0 une cause g\u00e9n\u00e9tique chez les patients adultes ayant une fibrose pulmonaire, surtout lorsqu\u2019elle s\u2019accompagne de signes \u201cextra-pulmonaires\u201d comme un vieillissement pr\u00e9matur\u00e9 des cheveux, des ongles fragiles ou des anomalies de la pigmentation.<a rel=\"noreferrer noopener\" target=\"_blank\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?Db=pubmed&amp;Cmd=ShowDetailView&amp;TermToSearch=31130511\"><\/a><\/p>\n\n\n\n<p>Le message principal est donc le suivant :&nbsp;<strong>les mutations de&nbsp;<em>DKC1<\/em>&nbsp;peuvent provoquer une fibrose pulmonaire s\u00e9v\u00e8re chez l\u2019adulte, avec un pronostic s\u00e9rieux, et certains signes cliniques peuvent aider \u00e0 la reconna\u00eetre plus t\u00f4t<\/strong>.<\/p>\n\n\n\n<p><a href=\"https:\/\/cri1149.fr\/publication\/les-patients-adultes-de-sexe-masculin-porteurs-de-mutations-du-gene-dkc1-presentent-une-fibrose-pulmonaire-dapparition-precoce-et-un-pronostic-severe\">https:\/\/cri1149.fr\/publication\/les-patients-adultes-de-sexe-masculin-porteurs-de-mutations-du-gene-dkc1-presentent-une-fibrose-pulmonaire-dapparition-precoce-et-un-pronostic-severe<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cet article de l&#8217;\u00e9quipe Mailleux\/Crestani s\u2019int\u00e9resse \u00e0 des patients adultes porteurs de mutations du g\u00e8ne\u00a0DKC1, un g\u00e8ne important pour la stabilit\u00e9 des cellules et le maintien des t\u00e9lom\u00e8res. Les auteurs [&hellip;]<\/p>\n","protected":false},"author":9,"featured_media":81354,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_EventAllDay":false,"_EventTimezone":"","_EventStartDate":"","_EventEndDate":"","_EventStartDateUTC":"","_EventEndDateUTC":"","_EventShowMap":false,"_EventShowMapLink":false,"_EventURL":"","_EventCost":"","_EventCostDescription":"","_EventCurrencySymbol":"","_EventCurrencyCode":"","_EventCurrencyPosition":"","_EventDateTimeSeparator":"","_EventTimeRangeSeparator":"","_EventOrganizerID":[],"_EventVenueID":[],"_OrganizerEmail":"","_OrganizerPhone":"","_OrganizerWebsite":"","_VenueAddress":"","_VenueCity":"","_VenueCountry":"","_VenueProvince":"","_VenueState":"","_VenueZip":"","_VenuePhone":"","_VenueURL":"","_VenueStateProvince":"","_VenueLat":"","_VenueLng":"","_VenueShowMap":false,"_VenueShowMapLink":false,"footnotes":""},"categories":[20],"tags":[],"class_list":["post-81352","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualites-du-mois"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Une mutation du g\u00e8ne DKC1 associ\u00e9e \u00e0 une fibrose pulmonaire s\u00e9v\u00e8re chez l\u2019adulte - CRI<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/cri1149.fr\/actualites\/actualites-du-mois\/une-mutation-du-gene-dkc1-associee-a-une-fibrose-pulmonaire-severe-chez-ladulte\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Une mutation du g\u00e8ne DKC1 associ\u00e9e \u00e0 une fibrose pulmonaire s\u00e9v\u00e8re chez l\u2019adulte - CRI\" \/>\n<meta property=\"og:description\" content=\"Cet article de l&#8217;\u00e9quipe Mailleux\/Crestani s\u2019int\u00e9resse \u00e0 des patients adultes porteurs de mutations du g\u00e8ne\u00a0DKC1, un g\u00e8ne important pour la stabilit\u00e9 des cellules et le maintien des t\u00e9lom\u00e8res. Les auteurs [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/cri1149.fr\/actualites\/actualites-du-mois\/une-mutation-du-gene-dkc1-associee-a-une-fibrose-pulmonaire-severe-chez-ladulte\/\" \/>\n<meta property=\"og:site_name\" content=\"CRI\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/CRI-Centre-de-recherche-sur-linflammation-100116118884153\" \/>\n<meta property=\"article:published_time\" content=\"2026-04-22T13:50:27+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-04-22T13:52:48+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/cri1149.fr\/wp-content\/uploads\/2026\/04\/00417-2025.02.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"797\" \/>\n\t<meta property=\"og:image:height\" content=\"1016\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Julien Tourneur-Marsille\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Julien Tourneur-Marsille\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/cri1149.fr\\\/actualites\\\/actualites-du-mois\\\/une-mutation-du-gene-dkc1-associee-a-une-fibrose-pulmonaire-severe-chez-ladulte\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/cri1149.fr\\\/actualites\\\/actualites-du-mois\\\/une-mutation-du-gene-dkc1-associee-a-une-fibrose-pulmonaire-severe-chez-ladulte\\\/\"},\"author\":{\"name\":\"Julien Tourneur-Marsille\",\"@id\":\"https:\\\/\\\/cri1149.fr\\\/#\\\/schema\\\/person\\\/8d52142957854ee6b1081a095b93ffb6\"},\"headline\":\"Une mutation du g\u00e8ne DKC1 associ\u00e9e \u00e0 une fibrose pulmonaire s\u00e9v\u00e8re chez l\u2019adulte\",\"datePublished\":\"2026-04-22T13:50:27+00:00\",\"dateModified\":\"2026-04-22T13:52:48+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/cri1149.fr\\\/actualites\\\/actualites-du-mois\\\/une-mutation-du-gene-dkc1-associee-a-une-fibrose-pulmonaire-severe-chez-ladulte\\\/\"},\"wordCount\":247,\"publisher\":{\"@id\":\"https:\\\/\\\/cri1149.fr\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/cri1149.fr\\\/actualites\\\/actualites-du-mois\\\/une-mutation-du-gene-dkc1-associee-a-une-fibrose-pulmonaire-severe-chez-ladulte\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/cri1149.fr\\\/wp-content\\\/uploads\\\/2026\\\/04\\\/00417-2025.02.jpg\",\"articleSection\":[\"Actualit\u00e9s du mois\"],\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/cri1149.fr\\\/actualites\\\/actualites-du-mois\\\/une-mutation-du-gene-dkc1-associee-a-une-fibrose-pulmonaire-severe-chez-ladulte\\\/\",\"url\":\"https:\\\/\\\/cri1149.fr\\\/actualites\\\/actualites-du-mois\\\/une-mutation-du-gene-dkc1-associee-a-une-fibrose-pulmonaire-severe-chez-ladulte\\\/\",\"name\":\"Une mutation du g\u00e8ne DKC1 associ\u00e9e \u00e0 une fibrose pulmonaire s\u00e9v\u00e8re chez l\u2019adulte - 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