{"id":638,"date":"2023-06-06T06:39:44","date_gmt":"2023-06-06T06:39:44","guid":{"rendered":"http:\/\/www.therapeut-naturheilpraxis.de\/?p=638"},"modified":"2023-07-03T12:46:50","modified_gmt":"2023-07-03T12:46:50","slug":"blog","status":"publish","type":"post","link":"https:\/\/therapeut-naturheilpraxis.de\/fr\/2023\/06\/06\/blog\/","title":{"rendered":"Dysplasie thoracique asphyxiante : revue clinique et mol\u00e9culaire de 39 familles"},"content":{"rendered":"<h2 class=\"wp-block-heading\">R\u00e9sum\u00e9<\/h2>\n\n\n\n<p><strong>Arri\u00e8re-plan :&nbsp;<\/strong>La dysplasie thoracique asphyxiante (ATD) fait partie du groupe des polydactylies \u00e0 c\u00f4tes courtes et se caract\u00e9rise par un thorax \u00e9troit, des os longs et courts et une vo\u00fbte ac\u00e9tabulaire trident\u00e9e. Les autres caract\u00e9ristiques signal\u00e9es comprennent la polydactylie, l'implication r\u00e9nale, h\u00e9patique et r\u00e9tinienne. A ce jour, des mutations dans IFT80, DYNC2H1, TTC21B et WDR19 ont \u00e9t\u00e9 signal\u00e9es dans l'ATD. L'h\u00e9t\u00e9rog\u00e9n\u00e9it\u00e9 clinique et mol\u00e9culaire entra\u00eene des difficult\u00e9s dans l'\u00e9valuation du pronostic \u00e0 long terme.<\/p>\n\n\n\n<p><strong>M\u00e9thodes :&nbsp;<\/strong>Nous avons examin\u00e9 53 cas d'ATD (23 cas vivants et 30 f\u0153tus) provenant de 39 familles. Ils ont b\u00e9n\u00e9fici\u00e9 d'une approche combin\u00e9e de ph\u00e9notypage profond et de screening mol\u00e9culaire IFT80 et DYNC2H1.<\/p>\n\n\n\n<p><strong>R\u00e9sultats :&nbsp;<\/strong>Parmi les 23 cas postnataux, une insuffisance pulmonaire a \u00e9t\u00e9 not\u00e9e dans 60% des cas, avec un besoin de trach\u00e9otomie dans cinq cas. Des maladies r\u00e9nales et h\u00e9patiques sont apparues respectivement dans 17% et 22% des cas, tandis que l'alt\u00e9ration r\u00e9tinienne \u00e9tait pr\u00e9sente dans 50% des cas \u00e2g\u00e9s de plus de 5 ans. Nous avons identifi\u00e9 des mutations DYNC2H1 dans 23 familles (59%) et des mutations IFT80 dans deux familles (5%). Cependant, dans six familles, seule une mutation h\u00e9t\u00e9rozygote dans l'un ou l'autre des IFT80 ou DYNC2H1 a \u00e9t\u00e9 identifi\u00e9e. Enfin, les deux g\u00e8nes ont \u00e9t\u00e9 exclus dans 14 familles (36%).<\/p>\n\n\n\n<p><strong>Conclusions :&nbsp;<\/strong>Nous concluons que DYNC2H1 est un g\u00e8ne majeur responsable de l'ATD, alors que l'IFT80 est rarement impliqu\u00e9. La pr\u00e9sence d'une seule mutation dans six familles et l'exclusion des deux g\u00e8nes dans 14 familles soutiennent l'implication d'autres g\u00e8nes ciliaires causaux. Le suivi \u00e0 long terme souligne que le pronostic pulmonaire est probablement moins p\u00e9joratif et que l'implication r\u00e9tinienne est plus fr\u00e9quente que ce que l'on pensait auparavant.<\/p>\n\n\n\n<p><a rel=\"noreferrer noopener\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23339108\/\" target=\"_blank\">Lire la suite pubMed.nci.nml.nih.gov<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Abstract Background:&nbsp;Asphyxiating Thoracic Dysplasia (ATD) belongs to the short rib polydactyly group and is characterized by a narrow thorax, short long bones and trident acetabular roof. Other reported features include polydactyly, renal, liver and retinal involvement. To date, mutations in IFT80, DYNC2H1, TTC21B and WDR19 have been reported in ATD. The clinical and molecular heterogeneity [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":1047,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6],"tags":[],"class_list":["post-638","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-blog","entry","has-media"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families - Molekulare Naturtherapie Praxis<\/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:\/\/therapeut-naturheilpraxis.de\/fr\/2023\/06\/06\/blog\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families - Molekulare Naturtherapie Praxis\" \/>\n<meta property=\"og:description\" content=\"Abstract Background:&nbsp;Asphyxiating Thoracic Dysplasia (ATD) belongs to the short rib polydactyly group and is characterized by a narrow thorax, short long bones and trident acetabular roof. Other reported features include polydactyly, renal, liver and retinal involvement. To date, mutations in IFT80, DYNC2H1, TTC21B and WDR19 have been reported in ATD. 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