{"id":57391,"date":"2025-05-20T06:32:44","date_gmt":"2025-05-20T04:32:44","guid":{"rendered":"https:\/\/www.invarena.cz\/?p=57391"},"modified":"2025-05-20T06:32:53","modified_gmt":"2025-05-20T04:32:53","slug":"vyzkum-vzacne-fabryho-choroby","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=57391","title":{"rendered":"V\u00fdzkum vz\u00e1cn\u00e9 Fabryho choroby"},"content":{"rendered":"\n

<\/p>\n\n\n\n

\u010cT 1 <\/p>\n\n\n\n


Vz\u00e1cn\u00e1 genetick\u00e1\u00a0nemoc<\/strong>\u00a0postihuj\u00edc\u00ed srdce, ledviny a nervov\u00fd syst\u00e9m, to je Fabryho choroba. D\u00edky \u00fasil\u00ed \u010desk\u00fdch\u00a0l\u00e9ka\u0159\u016f<\/strong>\u00a0a v\u011bdc\u016f se te\u010f poda\u0159ilo objasnit nov\u00fd mechanismus jej\u00edho vzniku.<\/p>\n\n\n\n

Ka\u017ed\u00e9 dva t\u00fddny mus\u00ed chodit na infuzi, p\u0159i kter\u00e9 dost\u00e1v\u00e1 n\u00e1hradn\u00ed enzym. Kv\u016fli Fabryho\u00a0nemoci<\/strong>\u00a0ho jej\u00ed organismus neum\u00ed spr\u00e1vn\u011b vyrobit. Stejnou diagn\u00f3zu m\u00e1 i otec Patricie Drdkov\u00e9.<\/p>\n\n\n\n

redaktorka \u010cT
——————–
D\u011bdi\u010dn\u00e1\u00a0nemoc<\/strong>\u00a0se m\u016f\u017ee projevit u\u017e v d\u011btstv\u00ed, v dosp\u011blosti postihuje org\u00e1ny, zejm\u00e9na srdce a ledviny.\u00a0L\u00e9ka\u0159i<\/strong>\u00a0v r\u00e1mci screeningov\u00e9ho programu vy\u0161et\u0159ili 6000 pacient\u016f na dial\u00fdze.<\/p>\n\n\n\n

Patricie Drdkov\u00e1, pacientka
——————–
Kdy\u017e se to zjistilo u n\u011bj, tak potom jsme \u0161li na preventivn\u00ed vy\u0161et\u0159en\u00ed na r\u016fzn\u00fd DNA testy a t\u00edm se to vlastn\u011b zjistilo.<\/p>\n\n\n\n

Gabriela Dost\u00e1lov\u00e1, Centrum pro Fabryho chorobu, 1. LF UK a VFN
——————–
My jsme z\u00edskali vlastn\u011b \u0161est rodin, kter\u00e9 m\u011bly stejnou variantu, stejn\u00fd typ chyby, ale dosud jsme se s n\u00ed nesetkali. Naprosto unik\u00e1tn\u00ed chyba, kter\u00e1 je nalezena jenom v \u010cesk\u00e9 republice.<\/p>\n\n\n\n

redaktorka \u010cT
——————–
N\u00e1sledovalo vy\u0161et\u0159en\u00ed t\u011bchto pacient\u016f, sestaven\u00ed rodokmen\u016f a odeb\u00edr\u00e1n\u00ed vzork\u016f. V\u00fdzkumn\u00fd t\u00fdm potom zjistil, \u017ee jde o dosud nepopsan\u00fd typ choroby.<\/p>\n\n\n\n

Stanislav Kmoch, Klinika pediatrie a d\u011bdi\u010dn\u00fdch chorob metabolismu, 1. LF UK a VFN v Praze
——————–
V\u00edme, \u017ee u \u010d\u00e1sti t\u011bch pacient\u016f ta l\u00e9\u010dba neprob\u00edh\u00e1 optim\u00e1ln\u011b, a tady u\u017e se nab\u00edzej\u00ed vlastn\u011b dal\u0161\u00ed potenci\u00e1ln\u00ed terapeutick\u00fd mo\u017enosti, jak t\u00e9to skupin\u011b pacient\u016f n\u011bjak\u00fdm zp\u016fsobem v budoucnu pomoci.<\/p>\n\n\n\n

redaktorka \u010cT
——————–
Aktu\u00e1ln\u011b \u010de\u0161t\u00ed\u00a0l\u00e9ka\u0159i<\/strong>\u00a0sleduj\u00ed zhruba 300 pacient\u016f s Fabryho\u00a0nemoc\u00ed<\/strong>. Podle odhadu jich ale m\u016f\u017ee b\u00fdt v \u010cesk\u00e9 republice v\u00edc – p\u0159es 1000. Nejen\u017ee objev otev\u00edr\u00e1 cesty pro novou l\u00e9\u010dbu, ale u\u017e te\u010f pom\u016f\u017ee v praxi, umo\u017en\u00ed toti\u017e sledovat \u0161ir\u0161\u00ed spektrum pacient\u016f a p\u0159edch\u00e1zet u nich selh\u00e1n\u00ed ledvin.<\/p>\n\n\n\n

\u010cesk\u00e1 televize<\/p>\n","protected":false},"excerpt":{"rendered":"

\u010cT 1 Vz\u00e1cn\u00e1 genetick\u00e1\u00a0nemoc\u00a0postihuj\u00edc\u00ed srdce, ledviny a nervov\u00fd syst\u00e9m, to je Fabryho choroba. D\u00edky \u00fasil\u00ed \u010desk\u00fdch\u00a0l\u00e9ka\u0159\u016f\u00a0a v\u011bdc\u016f se te\u010f poda\u0159ilo objasnit nov\u00fd mechanismus jej\u00edho vzniku. […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":56230,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-57391","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\/57391","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=57391"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/57391\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/56230"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=57391"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=57391"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=57391"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}