Vz\u00e1cn\u00e9 genetick\u00e9 onemocn\u011bn\u00ed p\u0159ipom\u00edn\u00e1 \u201ejeho\u201c mezin\u00e1rodn\u00ed den<\/p>\n\n\n\n
Praha, 8. \u010dervna 2026 \u2013 \u201eVa\u0161e d\u00edt\u011b bude slep\u00e9\u2026\u201c \u2013 Tuto v\u011btu ob\u010das sl\u00fdchaj\u00ed rodi\u010de d\u011bt\u00ed, u kter\u00fdch se objev\u00ed p\u0159\u00edznaky vz\u00e1cn\u00e9ho genetick\u00e9ho onemocn\u011bn\u00ed \u2013 albinismu. Prvn\u00ed projevy nemoci, nap\u0159\u00edklad mimovoln\u00ed pohyby o\u010d\u00ed, mohou l\u00e9ka\u0159e zav\u00e9st chybn\u00fdm sm\u011brem. U d\u011bt\u00ed s albinismem se s\u00edtnice vyv\u00edj\u00ed pomaleji a nemoc nav\u00edc nemus\u00ed b\u00fdt na prvn\u00ed pohled patrn\u00e1. Porucha pigmentace se nav\u00edc v\u00fdrazn\u011b li\u0161\u00ed, ne v\u0161echny d\u011bti maj\u00ed velmi sv\u011btlou k\u016f\u017ei nebo vlasy. Spr\u00e1vnou diagn\u00f3zu potvrd\u00ed a\u017e genetick\u00e9 testy.<\/p>\n\n\n\n
N\u011bkte\u0159\u00ed pacienti tak bohu\u017eel proch\u00e1zej\u00ed \u201epod radarem\u201c a nedost\u00e1v\u00e1 se jim pot\u0159ebn\u00e9 p\u00e9\u010de o zdravotn\u00ed komplikace, kter\u00e9 albinismus prov\u00e1zej\u00ed. Pomohla by centralizace p\u00e9\u010de, kter\u00e1 by lidem s albinismem zajistila pravideln\u00e9 kontroly u specialist\u016f obezn\u00e1men\u00fdch s t\u00edmto onemocn\u011bn\u00edm. Na probl\u00e9m upozor\u0148uj\u00ed odborn\u00edci a pacienti u p\u0159\u00edle\u017eitosti Mezin\u00e1rodn\u00edho dne pov\u011bdom\u00ed o albinismu, kter\u00fd p\u0159ipad\u00e1 na 13. \u010dervna. <\/p>\n\n\n\n
\u201eD\u011bti s albinismem b\u00fdvaj\u00ed sv\u011btlej\u0161\u00ed ne\u017e jejich rodi\u010de a sourozenci. Porucha pigmentace se ale r\u016fzn\u00ed. V \u010cesku, kde maj\u00ed d\u011bti \u010dasto sv\u011btlou ple\u0165 i vlasy, se albinismus u mal\u00fdch d\u011bt\u00ed pozn\u00e1 jen t\u011b\u017eko,\u201c vysv\u011btluje So\u0148a Da\u0148kov\u00e1 z pacientsk\u00e9 organizace Alb\u00edna. Sama si u sv\u00e9ho syna nejprve vyslechla n\u011bkolik d\u011bsiv\u00fdch sc\u00e9n\u00e1\u0159\u016f, ne\u017e l\u00e9ka\u0159i ur\u010dili spr\u00e1vnou diagn\u00f3zu.<\/p>\n\n\n\n
Albinismus je vrozen\u00e9 onemocn\u011bn\u00ed, p\u0159i kter\u00e9m t\u011blo nevytv\u00e1\u0159\u00ed dostatek melaninu \u2013 pigmentu chr\u00e1n\u00edc\u00edho k\u016f\u017ei, o\u010di a vlasy. Albinismus je nel\u00e9\u010diteln\u00fd a p\u0159in\u00e1\u0161\u00ed \u0159adu zdravotn\u00edch komplikac\u00ed. Nedostatek nebo \u00fapln\u00e1 absence melaninu vede k opakovan\u00e9mu sp\u00e1len\u00ed k\u016f\u017ee a\u017e do puch\u00fd\u0159\u016f, co\u017e zvy\u0161uje riziko vzniku ko\u017en\u00ed rakoviny a zp\u016fsobuje t\u011b\u017ek\u00e9 zrakov\u00e9 posti\u017een\u00ed. <\/p>\n\n\n\n
\u201eD\u011bti s albinismem \u010dasto vid\u00ed jen kolem 20 % toho, co zdrav\u00fd \u010dlov\u011bk. Rozpoznaj\u00ed barvy a prostor, ale nevid\u00ed detaily. Br\u00fdle mohou zlep\u0161it zrak jen \u010d\u00e1ste\u010dn\u011b a neum\u00ed odstranit hlavn\u00ed probl\u00e9my s vid\u011bn\u00edm. S albinismem se tak\u00e9 poj\u00ed sv\u011btloplachost, kter\u00e1 je dan\u00e1 ni\u017e\u0161\u00ed m\u00edrou pigmentace v oku. Siln\u00e9 sv\u011btlo m\u016f\u017ee zp\u016fsobit osln\u011bn\u00ed, a t\u00edm zhor\u0161it vid\u011bn\u00ed. D\u011bti s albinismem zvl\u00e1daj\u00ed b\u011b\u017en\u00e9 aktivity denn\u00edho \u017eivota, a pokud maj\u00ed vhodn\u00e9 pom\u016fcky a upraven\u00e9 podm\u00ednky, mohou studovat v\u011bt\u0161inu obor\u016f bez omezen\u00ed,\u201c \u0159\u00edk\u00e1 PaedDr. Mark\u00e9ta Skalick\u00e1, klinick\u00e1 zrakov\u00e1 terapeutka z Centra zrakov\u00fdch vad.<\/p>\n\n\n\n
Dal\u0161\u00edm stra\u0161\u00e1kem pacient\u016f s albinismem jsou nemoci k\u016f\u017ee, v\u010detn\u011b zhoubn\u00e9ho melanomu. Aby se ochr\u00e1nili p\u0159ed slune\u010dn\u00edm z\u00e1\u0159en\u00edm, chod\u00ed pacienti i v l\u00e9t\u011b zakryt\u00ed. Ma\u017eou se opalovac\u00edmi kr\u00e9my s vysok\u00fdm SPF \u2013 obecn\u011b minim\u00e1ln\u011b 50 a na m\u00edsta vystaven\u00e1 slunci ide\u00e1ln\u011b 100. \u201eLid\u00e9 s albinismem se mus\u00ed d\u016fsledn\u011b chr\u00e1nit, proto\u017ee jejich k\u016f\u017ee obsahuje minimum ochrann\u00e9ho pigmentu melaninu. UV z\u00e1\u0159en\u00ed tak poko\u017eku po\u0161kozuje v\u00fdrazn\u011b v\u00edce ne\u017e u b\u011b\u017en\u00e9 populace a vede k vysok\u00e9mu riziku vzniku n\u00e1dor\u016f, kter\u00e9 nevypadaj\u00ed jako u lid\u00ed bez albinismu. B\u00fdvaj\u00ed bez pigmentu, maj\u00ed r\u016f\u017eovou nebo \u010dervenou barvu a mohou p\u0159ipom\u00ednat \u0161t\u00edpanec od kom\u00e1ra nebo ekz\u00e9m. Proto se u t\u011bchto pacient\u016f diagn\u00f3za \u010dasto stanov\u00ed pozd\u011b, co\u017e je zrovna u zhoubn\u00e9ho melanomu velmi ne\u0161\u0165astn\u00e9,\u201c \u0159\u00edk\u00e1 prof. MUDr. Spyridon Gkalpakiotis, p\u0159ednosta Dermatovenerologick\u00e9 kliniky Fakultn\u00ed nemocnice Kr\u00e1lovsk\u00e9 Vinohrady a 3. l\u00e9ka\u0159sk\u00e9 fakulty Univerzity Karlovy. <\/p>\n\n\n\n
\u201eSpole\u010dn\u011b s pacientskou organizac\u00ed usilujeme o to, aby zdravotn\u00ed poji\u0161\u0165ovny p\u0159isp\u00edvaly lidem s albinismem na ochrann\u00e9 kr\u00e9my s faktorem 100, kter\u00e9 jsou registrovan\u00e9 jako zdravotnick\u00e9 prost\u0159edky. Pacienti je mus\u00ed pou\u017e\u00edvat celoro\u010dn\u011b na odhalen\u00e9 \u010d\u00e1sti, jako jsou obli\u010dej, krk, dekolt, h\u0159bety rukou. Pro rodiny je to finan\u010dn\u011b velmi n\u00e1ro\u010dn\u00e9,\u201c vysv\u011btluje prof. Gkalpakiotis.<\/p>\n\n\n\n
Lid\u00e9 s albinismem trp\u00ed v\u00fdskytem dal\u0161\u00edch ko\u017en\u00edch n\u00e1dor\u016f, p\u0159edev\u0161\u00edm spinaliomu a bazaliomu, d\u00e1le p\u0159ed\u010dasn\u00fdm st\u00e1rnut\u00edm k\u016f\u017ee, pomalej\u0161\u00edm hojen\u00edm ran, sn\u00ed\u017eenou elasticitou a pigmentov\u00fdmi skvrnami.
V n\u011bkter\u00fdch p\u0159\u00edpadech albinismus zp\u016fsobuje ni\u017e\u0161\u00ed sr\u00e1\u017elivost krve, chronick\u00e9 z\u00e1n\u011btliv\u00e9 onemocn\u011bn\u00ed tr\u00e1vic\u00edho traktu nebo plicn\u00ed fibr\u00f3zu.<\/p>\n\n\n\n
\u201eNa\u0161e pracovi\u0161t\u011b, kter\u00e9 se vz\u00e1cn\u00fdm ko\u017en\u00edm nemocem v\u011bnuje des\u00edtky let, je \u00fazce propojeno se specialisty, jako je nap\u0159\u00edklad gastroenterolog, oftalmolog, pneumolog \u010di imunolog. Komplexn\u00ed p\u00e9\u010de je naprosto nutn\u00e1, aby se nep\u0159ehl\u00e9dla n\u011bkter\u00e1 z komplikac\u00ed, je\u017e genetick\u00e9 onemocn\u011bn\u00ed prov\u00e1zej\u00ed,\u201c \u0159\u00edk\u00e1 MUDr. Ing. Jana K\u00fdrov\u00e1 z d\u011btsk\u00e9ho ko\u017en\u00edho odd\u011blen\u00ed Pediatrick\u00e9 kliniky FN Brno. Odd\u011blen\u00ed je sou\u010d\u00e1st\u00ed evropsk\u00e9 s\u00edt\u011b specializovan\u00fdch nemocnic a odborn\u00edk\u016f v\u011bnuj\u00edc\u00edch se vz\u00e1cn\u00fdm a slo\u017eit\u00fdm ko\u017en\u00edm onemocn\u011bn\u00edm. <\/p>\n\n\n\n
\u201eBohu\u017eel se n\u00e1m v praxi st\u00e1le st\u00e1v\u00e1, \u017ee k n\u00e1m p\u0159ijde \u010dlov\u011bk s albinismem, kter\u00fd je l\u00e9\u010den s jinou diagn\u00f3zou \u2013 nap\u0159\u00edklad \u0161ilhavost\u00ed,\u201c \u0159\u00edk\u00e1 dermatolo\u017eka. Jak d\u00e1le uv\u00e1d\u00ed, diagnostiku d\u011bt\u00ed, kter\u00e9 se kv\u016fli nystagmu (kmit\u00e1n\u00ed o\u010d\u00ed) dost\u00e1vaj\u00ed na oftalmologii, by usnadnilo modern\u011bj\u0161\u00ed p\u0159\u00edstrojov\u00e9 vybaven\u00ed.<\/p>\n\n\n\n
\u201eVe Francii, kter\u00e1 pat\u0159\u00ed ke \u0161pi\u010dk\u00e1m v p\u00e9\u010di o pacienty s albinismem, pou\u017e\u00edvaj\u00ed pro vy\u0161et\u0159en\u00ed s\u00edtnice p\u0159\u00edstroj, kter\u00fd um\u00ed vyfotit o\u010dn\u00ed pozad\u00ed za sekundu. U n\u00e1s je st\u00e1le t\u0159eba mal\u00e9 d\u011bti p\u0159im\u011bt, aby se p\u016fl minuty neh\u00fdbaly, tak\u017ee vy\u0161et\u0159en\u00ed vy\u017eaduje spolupr\u00e1ci pacienta,\u201c dod\u00e1v\u00e1 MUDr. Ing. Jana K\u00fdrov\u00e1.<\/p>\n\n\n\n
Ofici\u00e1ln\u011b \u017eije v \u010cesku asi 600 lid\u00ed s albinismem. Podle pacientsk\u00e9 organizace Alb\u00edna i podle l\u00e9ka\u0159\u016f je jich ale mnohem v\u00edce \u2013 a\u017e 1 000 lid\u00ed, kter\u00e9 nikdo nesleduje. V\u00edce informac\u00ed na: https:\/\/www.asociacealbina.cz.<\/p>\n","protected":false},"excerpt":{"rendered":"
Vz\u00e1cn\u00e9 genetick\u00e9 onemocn\u011bn\u00ed p\u0159ipom\u00edn\u00e1 \u201ejeho\u201c mezin\u00e1rodn\u00ed den Praha, 8. \u010dervna 2026 \u2013 \u201eVa\u0161e d\u00edt\u011b bude slep\u00e9\u2026\u201c \u2013 Tuto v\u011btu ob\u010das sl\u00fdchaj\u00ed rodi\u010de d\u011bt\u00ed, u kter\u00fdch […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":64068,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-64066","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\/64066","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=64066"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/64066\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/64068"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=64066"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=64066"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=64066"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}