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Comprendre l’hyperoxalurie primitive (HP) | Alnylam® France

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class="modal-body"> <h3>VOUS QUITTEZ À PRÉSENT WWW.ALNYLAM.FR</h3> <h4>Vous êtes maintenant dirigé vers un autre site web.</h4> <a class="sgcboxClose" href="http://news.alnylam.com/" id="popup_cta" rel="noopener" target="_blank">Poursuivre ›</a></div> </div> </div> </div> </div> </section> <article data-history-node-id="15" role="article" about="/hyperoxalurie-primitive" typeof="schema:WebPage" class="page full clearfix"> <span property="schema:name" content="HYPEROXALURIE PRIMITIVE" class="hidden"></span> <div class="content"> <div class="field field--name-field-header field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--header-image paragraph--view-mode--default"> <div class="field field--name-field-header- field--type-image field--label-hidden field--item"> <img loading="lazy" src="/sites/default/files/2020-12/hyperoxalurie-primitive.jpg" width="1280" height="384" alt="" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div> </div> <div class="field field--name-field-subpage-body field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--page-title paragraph--view-mode--default"> <div class="field field--name-field-page-ti field--type-text field--label-hidden field--item">HYPEROXALURIE PRIMITIVE</div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--intro-para paragraph--view-mode--default"> <div class="field field--name-field-intro-para field--type-text-long field--label-hidden field--items"> <div class="field--item"><h3 class="mb-24 sub-header">Comprendre l’hyperoxalurie primitive de type 1</h3> <p class="alt">L’Hyperoxalurie Primitive (HP) constitue un groupe de maladies héréditaires rares du foie caractérisées par la surproduction d’oxalate, un produit final du métabolisme. Des niveaux élevés d’oxalate sont toxiques car l’oxalate ne peut pas être assimilé par le corps humain et s’accumule dans les reins.</p> <p class="sub-para main-para-2 mt-24">Il existe 3 types d’HP : type 1 (HP1), type 2 (HP2) et type 3 (HP3). L’HP1 est la forme la plus courante et la plus grave, représentant 70 à 80 % des cas. L’HP1 est une maladie héréditaire rare dans laquelle des quantités excessives d’oxalate sont produites par le foie. L’HP1 touche environ 1 à 3 cas par million d’habitants.</p> <p class="sub-para main-para-2 mt-24">La prévalence pourrait être sous-estimée puisque 5% à 10% des patients reçoivent un diagnostic d’hyperoxalurie primitive (HP) lors d’une récidive de la maladie après transplantation rénale. Dans certaines régions, telles que le Moyen-Orient et l’Afrique du Nord, la prévalence génétique de l’HP1 est plus élevée.</p> </div> <div class="field--item"><h3>Quels sont les symptômes de l’HP1 ?</h3> <p class="alignment">Les personnes atteintes d’HP1 sont souvent confrontées à la formation de calculs d’oxalate dans les voies urinaires et les reins. Lorsqu’une personne atteinte d’HP1 a un calcul rénal, les symptômes peuvent comprendre :</p> <div class="col-list"><span class="inline-block"><span class="bullet">•</span>&nbsp; Douleur au flanc&nbsp;<br /> <span class="bullet">•</span>&nbsp;Infections des voies urinaires </span> <span class="break">&nbsp;</span> <span class="inline-block"> <span class="bullet">•</span>&nbsp;Miction douloureuse<br /> <span class="bullet">•</span>&nbsp;Sang dans les urines </span></div> <p class="alignment sub-para">Certaines personnes ne sont diagnostiquées qu’après une défaillance rénale et nécessitent une dialyse pour aider à filtrer les déchets du sang.</p> <h3>L’HP1 dans l’organisme</h3> <div class="hyperoxalurie"><img alt="L’hyperoxalurie primitive de type 1 (HP1) dans l'organisme " class="hyperoxalurie desktop" src="/sites/default/files/inline-images/ph1-inside-the-body-lg.png" /><img alt="L’hyperoxalurie primitive de type 1 (HP1) dans l'organisme " class="hyperoxalurie mobile" src="/sites/default/files/inline-images/ph1-inside-the-body-sm.png" /></div> </div> </div> </div> </div> </div> <div class="field field--name-field-body-full-width field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--gray-band paragraph--view-mode--default"> <div class="field field--name-field-gray-band-content field--type-text-long field--label-hidden field--items"> <div class="field--item"><h3>Apparition et progression de la maladie</h3> </div> <div class="field--item"><div class="chart"><img alt="Symptômes de l’hyperoxalurie primitive de type 1: petite enfance, enfance, adolescence, et âge adulte " class="desktop" src="/sites/default/files/inline-images/ph1-graphic-lg.png" /><img alt="Symptômes de l’hyperoxalurie primitive de type 1: petite enfance, enfance, adolescence, et âge adulte " class="mobile" src="/sites/default/files/inline-images/ph1-graphic-sm.png" /></div> <p class="left">Les patients peuvent être diagnostiqués d’une HP1 à tout âge, mais la plupart des personnes ressentent leurs premiers symptômes dans la petite enfance.</p> <p class="left">Pour de nombreux patients, l’HP1 n’est pas diagnostiquée immédiatement. Étant donné que les calculs rénaux sont plus courants chez l’adulte, les patients adultes atteints d’HP1 passent souvent de nombreuses années sans être diagnostiqués, jusqu’à ce qu’ils présentent une maladie rénale avancée.</p> <p class="left">À mesure que l’HP1 progresse, elle se traduit souvent par une insuffisance rénale terminale, une affection qui met la vie en danger et qui empêche les reins de filtrer efficacement les fluides et les déchets de l’organisme.</p> <p class="left" style="">Par conséquent, l’accumulation d’oxalate peut entraîner le dépôt de cristaux d’oxalate dans les yeux, les os, la peau, le cœur et le système nerveux central, provoquant une diminution de la vision, des fractures osseuses, des ulcères, une insuffisance cardiaque et d’autres complications.</p> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--wrapper paragraph--view-mode--default"> <div class="field field--name-field-wrapper-content field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--subpage-text paragraph--view-mode--default"> <div class="field field--name-field-sub field--type-text-long field--label-hidden field--items"> <div class="field--item"><div class="container img-para-block challenge-accepted pt-32 pb-64"> <div class="ca-img imag-block first-block"><img alt="" src="/sites/default/files/inline-images/PH_resources_Image.png" /></div> <div class="ca-text tex-block first-block"> <h3>Ressources destinées aux patients&nbsp;</h3> <ul> <li class="li-link about-link"><a class="Link " data-target="#extSiteModal" data-toggle="modal" href="https://www.livingwithph1.eu/fr" target="_blank">Vivreavecunehp1.fr</a></li> <li class="li-link about-link"><a class="Link " data-target="#NachrichtenModalInv" data-toggle="modal" href="https://www.airg-france.fr/" target="_blank">AIRG-france.fr </a></li> <li class="li-link about-link second-block"><a class="Link " data-target="#NachrichtenModalInv" data-toggle="modal" href="https://www.facebook.com/AIRG.France" target="_blank">Page Facebook AIRG France</a></li> </ul> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="field field--name-field-strips field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--gray-band paragraph--view-mode--default"> <div class="field field--name-field-wrapper field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--subpage-text paragraph--view-mode--default"> <div class="field field--name-field-sub field--type-text-long field--label-hidden field--items"> <div class="field--item"><div class="img-para-block challenge-accepted"> <div class="ca-text tex-block second-block"> <h3>Ressources destinées aux professionnels de santé</h3> <ul> <li class="li-link about-link"><a class="Link" data-target="#extSiteModal" data-toggle="modal" href="https://www.arni-academie.fr/" tabindex="-1" target="_blank">ARNi-academie.fr</a></li> </ul> </div> <div class="ca-img imag-block second-block"><img alt="" src="/sites/default/files/inline-images/professionnels.png" /></div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="field field--name-field-subpage-body-lower field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--subpage-text paragraph--view-mode--default"> <div class="field field--name-field-sub field--type-text-long field--label-hidden field--items"> <div class="field--item"><div class="last-section"> <div class="reference"> <h3 class="reference-h">Références</h3> <p class="reference-p">Edvardsson VO, Goldfarb DS, Lieske JC, et al. Hereditary causes of kidney stones and chronic kidney disease. <em>Peadiatr Nephrol</em>. 2013;28:1923-1942.</p> <p class="reference-p">Hopp K, Cogal A, Bergstralh E, et al. Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria. <em>J Am Soc Nephrol</em>. 2015;26:2559-2570.</p> <p class="reference-p">Milliner DS, Harris PC, Cogal AG, Lieske JC. Primary hyperoxaluria type 1. <em>GeneReviews</em>, University of Washington, Seattle. 1993-2018.</p> <p class="reference-p">Lorenz EC, Michet CJ, Milliner DS, Lieske JC. Update on oxalate crystal disease. <em>Curr Rheumatol Rep</em>. 2013;7:340.</p> <p class="reference-p">Zhao F, Bergstralh EJ, Mehta RA, et al. Predictors of incident ESRD among patients with primary hyperoxaluria presenting prior to kidney failure. <em>Clin J Am Soc Nephrol</em>. 2016;11:119-126.</p> <p class="reference-p">Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. <em>Kidney Int</em>. 2009;75:1264-1271.</p> <p class="reference-p">Cochat P, Deloraine A, Rotily M, Olive F, Liponski I, Deries N. Epidemiology of primary hyperoxaluria type 1. <em>Nephrol Dial Transplant</em>. 1885;10(Suppl 8):3-7.</p> <p class="reference-p">Cochat P, Rumsby G. Primary hyperoxaluria. <em>N Engl J Med</em>. 2013,369:649-658.</p> <p class="reference-p">Harambat J, Fargue S, Acquaviva C, et al. Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. <em>Kidney Int</em>. 2010;77:443–449.</p> </div> </div> </div> </div> </div> </div> </div> </div> </article> </div> </section> </div> </div> <footer class="footer" role="contentinfo"> <div class="footer_inner clearfix"> <div class="region region-footer"> <section id="block-thiscountryonly" class="block block-block-content block-block-content39174187-173e-4834-b922-a49e2117f37d clearfix"> <div class="field field--name-body field--type-text-with-summary field--label-hidden field--item"><div class="container_inner"> <div class="this-country-only"> <p>Le contenu de ce site est destiné aux personnes résidant en France.</p> <div class="footer-crop"> <p class="footer-a">Corp-FRA-00009 - Mai 2023</p> <p class="footer-b">© 2023, Alnylam France SAS, Tous droits réservés, RCS 818 575 730 100-102 avenue de Suffren, 75015 Paris, Information Médicale : <a href="mailto:medinfo@alnylam.com">medinfo@alnylam.com</a></p> </div> </div> </div> </div> </section> <section id="block-footer" class="block block-block-content block-block-content5d743e0f-f772-438d-8032-a0a431302739 clearfix"> <div class="field field--name-body field--type-text-with-summary field--label-hidden field--item"><div class="footer_bottom_holder"> <div class="footer_bottom"> <div class="textwidget"> <div class="container_inner"> <div class="top_wrapper_links"><a data-target="#extSiteModal" data-toggle="modal" href="https://alnylampolicies.com/fr/privacy" target="_blank">Politique de confidentialité</a> <a data-target="#extSiteModal" data-toggle="modal" href="https://alnylampolicies.com/fr/legal" target="_blank">Mentions légales </a></div> <div class="left-footer-bottom" style="text-align:right;"><span class="copyright">© 2024 Tous droits réservés Alnylam France</span></div> </div> </div> </div> </div> </div> </section> <section id="block-modalblock" class="block block-block-content block-block-content9998ed11-02eb-4f21-8e5a-fe902231f2d4 clearfix"> <div class="field field--name-body field--type-text-with-summary field--label-hidden field--item"><div aria-labelledby="myModalLabel" class="modal fade" id="NachrichtenModal" role="dialog" tabindex="-1"> <div class="modal-dialog modal-lg" role="document"> <div class="modal-content"> <div class="modal-header"><button aria-label="Close" class="close" data-dismiss="modal" type="button"><span aria-hidden="true">X</span></button></div> <div class="modal-body"> <h3>REDIRECTION EN COURS</h3> <h4>Vous quittez à présent www.alnylam.fr pour accéder à notre site Web international (www.alnylam.com), dont le contenu est rédigé en anglais.</h4> <a class="sgcboxClose" href="http://news.alnylam.com/" id="popup_cta" rel="noopener" target="_blank">Poursuivre ›</a></div> </div> </div> </div> <!-- This is the next message for Interstitial Message--> <div aria-labelledby="myModalLabel" class="modal fade" id="NachrichtenModalInv" role="dialog" tabindex="-1"> <div class="modal-dialog modal-lg" role="document"> <div class="modal-content"> <div class="modal-header"><button aria-label="Close" class="close" data-dismiss="modal" type="button"><span aria-hidden="true">X</span></button></div> <div class="modal-body"> <h3>VOUS QUITTEZ À PRÉSENT WWW.ALNYLAM.FR</h3> <h4>Le contenu qui suit n'est pas associé à Alnylam Pharmaceuticals. 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