{"id":41742,"date":"2023-08-29T12:42:52","date_gmt":"2023-08-29T10:42:52","guid":{"rendered":"https:\/\/www.invarena.cz\/?p=41742"},"modified":"2023-08-29T12:42:57","modified_gmt":"2023-08-29T10:42:57","slug":"v-cesku-by-mohla-vzniknout-dalsi-centra-kde-leci-genetickou-vadu","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=41742","title":{"rendered":"V\u00a0\u010cesku by mohla vzniknout dal\u0161\u00ed centra, kde l\u00e9\u010d\u00ed genetickou vadu"},"content":{"rendered":"\n<p><\/p>\n\n\n\n<p><strong>Plicn\u00ed l\u00e9ka\u0159i usiluj\u00ed o akreditace center, kde by se mohli l\u00e9\u010dit lid\u00e9 s\u00a0chronickou obstruk\u010dn\u00ed plicn\u00ed nemoc\u00ed (CHOPN), pokud u nich l\u00e9ka\u0159i najdou nedostatek tzv. alfa-1 antitrypsinu (AAT). To je l\u00e1tka, kter\u00e1 chr\u00e1n\u00ed pl\u00edce p\u0159ed destrukc\u00ed. Nyn\u00ed tyto pacienty l\u00e9\u010d\u00ed jedin\u00e9 centrum v\u00a0Praze, kter\u00e9 je u\u017e p\u0159et\u00ed\u017een\u00e9. Pneumologov\u00e9 cht\u011bj\u00ed, aby takov\u00fdch center bylo v\u00a0\u010cesku p\u011bt. O jejich ov\u011b\u0159en\u00ed \u017e\u00e1daj\u00ed ministerstvo zdravotnictv\u00ed.<\/strong><\/p>\n\n\n\n<p><em>\u201eDosud je jedin\u00fdm centrem Fakultn\u00ed Thomayerova nemocnice v&nbsp;Praze, a ta je pacienty zcela zapln\u011bna. Usilujeme tedy o akreditaci dal\u0161\u00edch center, aby lid\u00e9, jim\u017e alfa -1 antitrypsin chyb\u00ed mohli zah\u00e1jit augmenta\u010dn\u00ed l\u00e9\u010dbu v&nbsp;podob\u011b <\/em><em>dopln\u011bn\u00ed proteinu od zdrav\u00fdch d\u00e1rc\u016f co nejbl\u00ed\u017ee sv\u00e9mu bydli\u0161ti,\u201c <\/em>vysv\u011btluje prof. MUDr. Martina Koziar Va\u0161\u00e1kov\u00e1, Ph.D., p\u0159edsedkyn\u011b \u010cesk\u00e9 pneumologick\u00e9 a ftizeologick\u00e9 spole\u010dnosti (\u010cPFS) \u010cLS JEP. Pokud ministerstvo zdravotnictv\u00ed akreditace umo\u017en\u00ed, mohla by v&nbsp;bl\u00edzk\u00e9 budoucnosti vzniknout centra v&nbsp;Hradci Kr\u00e1lov\u00e9, Olomouci, Brn\u011b a Plzni.<\/p>\n\n\n\n<p>Kolik lid\u00ed v\u00a0\u010cesku si vylosuje \u010dern\u00e9ho Petra v\u00a0podob\u011b t\u00e9to genetick\u00e9 vady nelze podle odborn\u00edk\u016f p\u0159esn\u011b odhadnout, u \u0159ady z\u00a0nich se toti\u017e nedostatek alfa-1 antitrypsinu neprojev\u00ed, zvl\u00e1\u0161t\u011b pokud neza\u010dnou kou\u0159it, a nen\u00ed tak d\u016fvod pro n\u011bm p\u00e1trat. Podstoupit testy by v\u0161ak m\u011bli v\u0161ichni lid\u00e9 s chronickou obstruk\u010dn\u00ed plicn\u00ed nemoc\u00ed (CHOPN). Test se prov\u00e1d\u00ed z\u00a0krve a je mo\u017en\u00e9 jej podstoupit u l\u00e9ka\u0159\u016f nejr\u016fzn\u011bj\u0161\u00edch specializac\u00ed, nap\u0159\u00edklad u pneumologa, praktika \u010di alergologa. <\/p>\n\n\n\n<p>\u201e<em>Pokud pacient s\u00a0CHOPN trp\u00ed z\u00e1rove\u0148 nedostatkem alfa -1 antitrypsinu, hroz\u00ed mu, \u017ee u n\u011bj nemoc postoup\u00ed v\u00fdrazn\u011b rychleji a agresivn\u011bji a objev\u00ed se i ve 30 letech. P\u0159itom CHOPN se obvykle t\u00fdk\u00e1 a\u017e lid\u00ed kolem pades\u00e1tky a star\u0161\u00edch. Odhadujeme, \u017ee v\u00a0\u010cesku je p\u0159ibli\u017en\u011b 1 % v\u0161ech pacient\u016f s CHOPN, kte\u0159\u00ed tuto genetickou vadu maj\u00ed \u2013 tedy p\u0159ibli\u017en\u011b ni\u017e\u0161\u00ed tis\u00edce nemocn\u00fdch. V\u00ed o tom jen zlomek z\u00a0nich. Pokud tito lid\u00e9 nav\u00edc kou\u0159\u00ed, rychl\u00fd postup nemoci je bohu\u017eel nevyhnuteln\u00fd,\u201c<\/em> \u0159\u00edk\u00e1 doc. MUDr. Vladim\u00edr Kobl\u00ed\u017eek, Ph.D., p\u0159ednosta Plicn\u00ed kliniky Fakultn\u00ed nemocnice a LF UK v Hradci Kr\u00e1lov\u00e9.<\/p>\n\n\n\n<p>\u201e<em>Chyb\u011bj\u00edc\u00ed protein je mo\u017en\u00e9 nahradit pomoc\u00ed tzv. augmenta\u010dn\u00ed l\u00e9\u010dby, kdy se dod\u00e1 p\u0159\u00edmo do t\u011bla pacient\u016f nitro\u017eiln\u00ed \u201akapa\u010dkou\u2018. \u010cesk\u00e1 republika pat\u0159\u00ed k\u00a0n\u011bkolika m\u00e1lo zem\u00edm v\u00fdchodn\u00edho bloku, kter\u00e1 tuto modern\u00ed l\u00e9\u010dbu nejt\u011b\u017e\u0161\u00edm pacient\u016fm hrad\u00ed. Nav\u00edc pro n\u011bkter\u00e9 pacienty existuj\u00ed i dal\u0161\u00ed l\u00e9\u010debn\u00e9 mo\u017enosti, jako je nap\u0159\u00edklad zaveden\u00ed speci\u00e1ln\u00edch chlopn\u00ed do oblasti plic nejv\u00edce posti\u017een\u00fdch plicn\u00edm emfyz\u00e9mem,\u201c<\/em> dod\u00e1v\u00e1 pneumolog.<\/p>\n\n\n\n<p>Zpozorn\u011bt a nechat si zm\u011b\u0159it hladinu alfa-1 antitrypsinu by podle l\u00e9ka\u0159\u016f m\u011bli tak\u00e9 jedinci, u nich\u017e se u\u017e v&nbsp;rann\u00e9m v\u011bku vyskytuje t\u011b\u017ek\u00e9 astma nebo bronchiekt\u00e1zie. I toto posti\u017een\u00ed plic m\u016f\u017ee b\u00fdt projevem deficitu alfa-1 antitrypsinu, kter\u00fd se nej\u010dast\u011bji projevuje pr\u00e1v\u011b v plic\u00edch. Nedostatek alfa-1 antitrypsinu se m\u016f\u017ee projevit tak\u00e9 posti\u017een\u00edm jater. Pacienti s&nbsp;deficitem AAT jsou sledov\u00e1ni v&nbsp;n\u00e1rodn\u00edm registru.<\/p>\n\n\n\n<p>CHOPN m\u00e1 v&nbsp;\u010cesku p\u0159ibli\u017en\u011b 700&nbsp;000 lid\u00ed, p\u0159ibli\u017en\u011b polovina o sv\u00e9 nemoci nev\u00ed a probl\u00e9my s&nbsp;d\u00fdch\u00e1n\u00edm p\u0159isuzuje n\u011b\u010demu jin\u00e9mu, nap\u0159\u00edklad st\u00e1\u0159\u00ed nebo \u0161patn\u00e9 kondici.<\/p>\n\n\n\n<p><strong>O nemoci:<\/strong><\/p>\n\n\n\n<p>Deficit alfa-1 antitrypsinu (AAT) je d\u011bdi\u010dn\u00e9 onemocn\u011bn\u00ed, zp\u016fsoben\u00e9 sn\u00ed\u017eenou hladinou (nebo \u00fapln\u00fdm chyb\u011bn\u00edm) tohoto enzymu v&nbsp;krvi. Hlavn\u00edm projevem deficitu AAT je rozedma plic, (jin\u00fdmi slovy emfyz\u00e9m nebo CHOPN). Riziko posti\u017een\u00ed plic z\u00e1le\u017e\u00ed na hladin\u011b enzymu v&nbsp;krvi \u2013 \u010d\u00edm je ni\u017e\u0161\u00ed, t\u00edm je riziko onemocn\u011bn\u00ed v\u011bt\u0161\u00ed. Pl\u00edce v\u0161ak nejsou jedin\u00fdm org\u00e1nem, kter\u00fd m\u016f\u017ee b\u00fdt posti\u017een\u00fd. Relativn\u011b \u010dasto jsou posti\u017eena j\u00e1tra, asi t\u0159etina nemocn\u00fdch je ohro\u017eena v\u00fdvojem cirh\u00f3zy jater. Posti\u017een\u00ed jin\u00fdch org\u00e1n\u016f je vz\u00e1cn\u00e9, ale lze se setkat s&nbsp;posti\u017een\u00edm k\u016f\u017ee, st\u0159ev nebo jin\u00fdch org\u00e1n\u016f. V\u00edce informac\u00ed na <a href=\"https:\/\/www.alfa1.cz\">https:\/\/www.alfa1.cz<\/a>.<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<div class=\"mh-excerpt\"><p>Plicn\u00ed l\u00e9ka\u0159i usiluj\u00ed o akreditace center, kde by se mohli l\u00e9\u010dit lid\u00e9 s\u00a0chronickou obstruk\u010dn\u00ed plicn\u00ed nemoc\u00ed (CHOPN), pokud u nich l\u00e9ka\u0159i najdou nedostatek tzv. alfa-1 <a class=\"mh-excerpt-more\" href=\"https:\/\/www.invarena.cz\/?p=41742\" title=\"V\u00a0\u010cesku by mohla vzniknout dal\u0161\u00ed centra, kde l\u00e9\u010d\u00ed genetickou vadu\">[&#8230;]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":27890,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-41742","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-zdravi"],"_links":{"self":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/41742","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=41742"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/41742\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/27890"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=41742"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=41742"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=41742"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}