Gorlin\u016fv syndrom je vz\u00e1cn\u00e9 geneticky podm\u00edn\u011bn\u00e9 onemocn\u011bn\u00ed. Touto nevyl\u00e9\u010ditelnou nemoc\u00ed trp\u00ed zhruba jeden \u010dlov\u011bk z pades\u00e1ti tis\u00edc. Jedn\u00edm z t\u011bch, u koho se p\u0159\u00edznaky nemoci za\u010daly objevovat u\u017e v \u00fatl\u00e9m v\u011bku je i t\u0159\u00ed a p\u016fllet\u00e1 Barborka z Vrchlab\u00ed.<\/p>\n
Report\u00e1\u017e Prima FTV.<\/p>\n
Barborka se narodila jako zdrav\u00e9 miminko. V prvn\u00edch m\u011bs\u00edc\u00edch bylo v\u0161e v po\u0159\u00e1dku, zvrat p\u0159i\u0161el a\u017e po prvn\u00edch narozenin\u00e1ch.<\/p>\n
Marie KRUPI\u010cKOV\u00c1, maminka Barborky:
\nZa\u010dala \u0161ilhat, za\u010daly se j\u00ed d\u011blat deformace \u017eeber, \u0161patn\u011b mluvila, byla na tom \u0161patn\u011b a opo\u017ed\u011bn\u011b v\u00fdvojov\u011b.<\/p>\n
redaktorka: Alena PUCHMAJEROV\u00c1, l\u00e9ka\u0159ka; Odd. klinick\u00e9 genetiky; FN v Motole: redaktorka: Marie KRUPI\u010cKOV\u00c1, maminka Barborky: redaktorka: Alena PUCHMAJEROV\u00c1, l\u00e9ka\u0159ka; Odd. klinick\u00e9 genetiky; FN v Motole: redaktorka: Alena PUCHMAJEROV\u00c1, l\u00e9ka\u0159ka; Odd. klinick\u00e9 genetiky; FN v Motole: Marie KRUPI\u010cKOV\u00c1, redaktorka: Gorlin\u016fv syndrom je vz\u00e1cn\u00e9 geneticky podm\u00edn\u011bn\u00e9 onemocn\u011bn\u00ed. Touto nevyl\u00e9\u010ditelnou nemoc\u00ed trp\u00ed zhruba jeden \u010dlov\u011bk z pades\u00e1ti tis\u00edc. Jedn\u00edm z t\u011bch, u koho se p\u0159\u00edznaky nemoci […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":39888,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-16186","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\/16186","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=16186"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/16186\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/39888"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=16186"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=16186"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=16186"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\nRodi\u010de dlouho nev\u011bd\u011bli, co se s Barborkou d\u011bje. Pak zm\u011bnili obvodn\u00edho l\u00e9ka\u0159e<\/span> a teprve nov\u00e1 doktorka poslala hol\u010di\u010dku na neurologick\u00e9 vy\u0161et\u0159en\u00ed. Tam padla jasn\u00e1 diagn\u00f3za, jde o Gorlin\u016fv syndrom.<\/p>\n
\nV\u00edme, \u017ee j\u00ed chyb\u00ed \u010d\u00e1st dev\u00e1t\u00e9ho chromozomu, ale nev\u00edme \u00fapln\u011b p\u0159esn\u011b, jak\u00e9 geny Barunce chyb\u00ed.<\/p>\n
\nOnemocn\u011bn\u00ed znamen\u00e1 pro Barborku a jej\u00ed rodinu velk\u00e9 omezen\u00ed. Nap\u0159\u00edklad by se nem\u011bla vystavovat p\u0159\u00edm\u00e9mu slunci. UV a ionizuj\u00edc\u00ed z\u00e1\u0159en\u00ed toti\u017e podporuj\u00ed u nemocn\u00fdch r\u016fst takzvan\u00fdch fibrom\u016f, kter\u00e9 se v nemocn\u00e9m t\u011ble tvo\u0159\u00ed po des\u00edtk\u00e1ch.<\/p>\n
\nTam j\u00ed vlastn\u011b zjistili ty dva fibromky velikosti dvou milimetr\u016f na srd\u00ed\u010dku. Mus\u00edme po\u010dkat, jestli to poroste, pokud to poroste, tak se to bude muset vyoperovat.<\/p>\n
\nBarborka nav\u00edc velmi rychle roste, co\u017e je jeden z typick\u00fdch p\u0159\u00edznak\u016f Gorlinova syndromu. Podle l\u00e9ka\u0159\u016f<\/span> se dal\u0161\u00ed projev\u00ed hlavn\u011b v obdob\u00ed dosp\u00edv\u00e1n\u00ed.<\/p>\n
\nKo\u017en\u00ed n\u00e1dory, velk\u00fd obvod hlavy, pak pacienti maj\u00ed cysty \u010delisti.<\/p>\n
\nGorlin\u016fv syndrom se bohu\u017eel ned\u00e1 l\u00e9\u010dit.<\/p>\n
\nL\u00e9\u010dba Gorlinova syndromu nen\u00ed mo\u017en\u00e1, proto\u017ee gen my opravit neum\u00edme, ale pacient je sledov\u00e1n, l\u00e9\u010d\u00edme p\u0159\u00edznaky.<\/p>\n
\nCelej \u017eivot ve strachu, co se stane.<\/p>\n
\nBarborka bude neust\u00e1le a to z\u0159ejm\u011b po cel\u00fd \u017eivot bude pod pe\u010dliv\u00fdm dohledem l\u00e9ka\u0159\u016f<\/span>.<\/p>\n","protected":false},"excerpt":{"rendered":"