Ne ka\u017ed\u00e9 d\u011bdictv\u00ed n\u00e1m mohou ostatn\u00ed z\u00e1vid\u011bt. Ani kdy\u017e jde o naprostou vz\u00e1cnost. Sv\u00e9 o tom v\u00ed pan Ji\u0159\u00ed (50). Po mamince zd\u011bdil Fabryho nemoc.<\/p>\n
Prvn\u00ed p\u0159\u00edznaky se u n\u011bj projevily u\u017e v 17 letech.
\nPot\u00ed\u017ee za\u010daly po t\u011b\u017ek\u00e9 ang\u00edn\u011b. B\u011bhem n\u00ed m\u011bl vysok\u00e9 hore\u010dky, za\u010dal se motat a hu\u010delo mu v u\u0161\u00edch. V krajsk\u00e9 nemocnici mu diagnostikovali syndrom modr\u00fdch hystiocyt\u016f v krvi. 20 let tam proto doj\u00ed\u017ed\u011bl na kontroly, ale a\u017e v roce 2003 dostal pozv\u00e1n\u00ed na vy\u0161et\u0159en\u00ed do Prahy a potvrdila se kone\u010dn\u00e1 diagn\u00f3za – Fabryho nemoc. Po nasazen\u00ed l\u00e9\u010dby do\u0161lo k m\u00edrn\u00e9mu zlep\u0161en\u00ed. V roce 2012 v\u0161ak Ji\u0159\u00ed dostal mrtvici, z n\u00ed\u017e se jeho t\u011blo vzpamatov\u00e1valo t\u0159i m\u011bs\u00edce. Dosud v\u0161ak m\u00e1 velk\u00e9 probl\u00e9my s ch\u016fz\u00ed. \u010c\u00e1ste\u010dn\u011b byl zasa\u017een i mozek. I p\u0159es intenzivn\u00ed l\u00e9\u010dbu se Ji\u0159\u00edho stav st\u00e1le zhor\u0161uje. V lo\u0148sk\u00e9m roce se p\u0159idaly pot\u00ed\u017ee se srdcem a l\u00e9ka\u0159i uva\u017euj\u00ed o voperov\u00e1n\u00ed „bud\u00edku“. Ka\u017edodenn\u00ed probl\u00e9my, jim\u017e mus\u00ed Ji\u0159\u00ed \u010delit, jsou tak\u00e9 siln\u00e1 hluchota a \u0161um v u\u0161\u00edch, t\u011b\u017ek\u00e9 d\u00fdch\u00e1n\u00ed, ot\u00e9k\u00e1n\u00ed nohou a v\u00fdrazn\u011b naru\u0161en\u00e1 stabilita.
\nStejn\u011b jako ostatn\u00ed pacienti s Fabryho nemoc\u00ed, i Ji\u0159\u00ed doj\u00ed\u017ed\u00ed ka\u017ed\u00fdch 14 dn\u00ed na infuze.
\n„I kdy\u017e se nemoc nezastavila, d\u00edky l\u00e9\u010db\u011b se jej\u00ed pr\u016fb\u011bh hodn\u011b zpomalil a n\u00e1sledky nejsou tak rozs\u00e1hl\u00e9. Bez l\u00e9k\u016f by na tom byl mnohem h\u016f\u0159,“ \u0159\u00edk\u00e1 man\u017eelka Eva. „D\u00edky p\u00e9\u010di l\u00e9ka\u0159\u016f je Ji\u0159\u00ed neust\u00e1le sledovan\u00fd a p\u0159i jak\u00fdchkoli obt\u00ed\u017e\u00edch hned l\u00e9\u010den\u00fd. Za to v\u0161em moc d\u011bkujeme.“ *<\/p>\n
M\u016e\u017dE ZA TO CHROMOZOM X<\/p>\n
Fabryho nemoc je onemocn\u011bn\u00ed tak vz\u00e1cn\u00e9, \u017ee jej ani mnoz\u00ed l\u00e9ka\u0159i neznaj\u00ed – genetick\u00e9 d\u011bdictv\u00ed zat\u011b\u017euje asi jednoho \u010dlov\u011bka ze 40 tis\u00edc. Nemoc je v\u00e1z\u00e1na na pohlavn\u00ed chromozom X, kter\u00fd m\u016f\u017ee za to, \u017ee v rodin\u00e1ch p\u0159e\u017e\u00edv\u00e1 z generace na generaci. Mu\u017ei s Fabryho chorobou p\u0159ed\u00e1vaj\u00ed defektn\u00ed gen v\u0161em sv\u00fdm dcer\u00e1m, ale \u017e\u00e1dn\u00e9mu synovi. \u017deny maj\u00ed 50procentn\u00ed pravd\u011bpodobnost, \u017ee p\u0159edaj\u00ed gen d\u011btem obou pohlav\u00ed. I proto l\u00e9ka\u0159i p\u0159i stanoven\u00ed diagn\u00f3zy vy\u0161et\u0159uj\u00ed nejbli\u017e\u0161\u00ed pokrevn\u00ed p\u0159\u00edbuzn\u00e9 pacienta. Chromozom X tak\u00e9 zp\u016fsobuje, \u017ee u mu\u017e\u016f je pr\u016fb\u011bh nemoci hor\u0161\u00ed, zat\u00edmco u \u017een b\u00fdv\u00e1 onemocn\u011bn\u00ed m\u00e9n\u011b z\u00e1va\u017en\u00e9. Pokud se pacient neza\u010dne l\u00e9\u010dit v\u010das, hroz\u00ed mu t\u011b\u017ek\u00e9 ledvinov\u00e9 a srde\u010dn\u00ed komplikace i mozkov\u00e9 p\u0159\u00edhody. Bez l\u00e9\u010dby nem\u00e1 p\u0159\u00edli\u0161 \u0161anc\u00ed oslavit 60. narozeniny. \u010cas je u t\u00e9to choroby kl\u00ed\u010dov\u00fd faktor. V\u011bt\u0161ina pacient\u016f je toti\u017e mnoho let chybn\u011b l\u00e9\u010dena na jin\u00e9 diagn\u00f3zy.<\/p>\n
* NA DIAGN\u00d3ZU STA\u010c\u00cd KAPKA KRVE<\/p>\n
Pacienti s Fabryho nemoc\u00ed maj\u00ed pot\u00ed\u017ee v\u011bt\u0161inou odmali\u010dka. Jejich t\u011blo m\u00e1 m\u00e1lo enzymu, kter\u00fd zpracov\u00e1v\u00e1 ur\u010ditou \u010d\u00e1st tuk\u016f, tak\u017ee ten se hromad\u00ed.
\nVe st\u011bn\u00e1ch c\u00e9v, v nervov\u00fdch a srde\u010dn\u00edch svalov\u00fdch bu\u0148k\u00e1ch nebo v bu\u0148k\u00e1ch ledvin a naru\u0161uje je. \u010c\u00edm je pacient star\u0161\u00ed, t\u00edm h\u016f\u0159 na tom jeho t\u011blo je -selh\u00e1n\u00ed ledvin, pot\u00ed\u017ee se srdcem, \u010dast\u00e9 jsou i mozkov\u00e9 p\u0159\u00edhody.
\nStanoven\u00ed diagn\u00f3zy je p\u0159itom u mu\u017e\u016f velmi rychl\u00e9. Sta\u010d\u00ed jednoduch\u00fd test s pomoc\u00ed such\u00e9 krevn\u00ed kapky. Trv\u00e1 v\u0161ak bohu\u017eel pom\u011brn\u011b dlouho, ne\u017e se nemocn\u00fd dostane na specializovan\u00e9 pracovi\u0161t\u011b, kde mu testy ud\u011blaj\u00ed. „Probl\u00e9m je hlavn\u011b v tom, \u017ee se jedn\u00e1 opravdu o vz\u00e1cnou diagn\u00f3zu – n\u011bkter\u00fd l\u00e9ka\u0159 se s takov\u00fdmto onemocn\u011bn\u00edm nemus\u00ed setkat po celou dobu sv\u00e9 praxe. P\u0159\u00edznaky jsou nav\u00edc \u010dasto velice podobn\u00e9 n\u011bkter\u00fdm jin\u00fdm onemocn\u011bn\u00edm, kter\u00e1 se vyskytuj\u00ed \u010dast\u011bji,“ vysv\u011btluje MUDr. V\u011bra Malinov\u00e1, specialistka na l\u00e9\u010dbu vz\u00e1cn\u00fdch chorob.<\/p>\n
– V\u010cASN\u00c1 L\u00c9\u010cBA PRODLU\u017dUJE \u017dIVOT<\/p>\n
Pro pacienty s Fabryho nemoc\u00ed maj\u00ed l\u00e9ka\u0159i alespo\u0148 jednu dobrou zpr\u00e1vu: jejich nemoc je l\u00e9\u010diteln\u00e1. Na rozd\u00edl od tis\u00edc\u016f dal\u0161\u00edch vz\u00e1cn\u00fdch diagn\u00f3z, s nimi\u017e si medic\u00edna zat\u00edm nev\u00ed rady. U t\u011bch se pacienti mus\u00ed spolehnout na tzv. symptomatickou l\u00e9\u010dbu, tedy l\u00e9\u010dbu, kter\u00e1 nevy\u0159e\u0161\u00ed p\u0159\u00ed\u010dinu onemocn\u011bn\u00ed, ale m\u00edrn\u00ed jednotliv\u00e9 p\u0159\u00edznaky a tlum\u00ed tak pacientovy zdravotn\u00ed pot\u00ed\u017ee. *<\/p>\n
JSEM \u0160\u0164ASTN\u00dd PACIENT<\/p>\n
P\u0159ed sedmi lety diagnostikovali Fabryho nemoc panu Bohuslavovi (69). Za\u010dal proto doch\u00e1zet na l\u00e9\u010dbu infuzemi do centra pro l\u00e9\u010dbu Fabryho nemoci. „Doch\u00e1zet nen\u00ed p\u0159esn\u00e9 slovo, centrum je ve \u010dtvrt\u00e9m pat\u0159e, jezdil jsem v\u00fdtahem,“ vzpom\u00edn\u00e1. „Dnes bez probl\u00e9m\u016f vyjdu po schodech. Je jich p\u0159esn\u011b 99. L\u00e9\u010dba zabrala, jsem \u0161\u0165astn\u00fd pacient.“
\nZdravotn\u00ed pot\u00ed\u017ee pana Bohuslava za\u010daly ve 40 letech.
\nKe zv\u00fd\u0161en\u00e9mu krevn\u00edmu tlaku se o p\u011bt let pozd\u011bji p\u0159idalo sn\u00ed\u017een\u00ed ledvinov\u00fdch funkc\u00ed. Vydr\u017eel \u0161est let, a pak u\u017e musela b\u00fdt zah\u00e1jena l\u00e9\u010dba dial\u00fdzou a za\u010dalo \u010dek\u00e1n\u00ed na transplantaci. „Vhodn\u00e1 ledvina se na\u0161la, a tak jsem mohl ve sv\u00fdch 54 letech podstoupit transplantaci,“ vzpom\u00edn\u00e1. Jen\u017ee pot\u00ed\u017ee nep\u0159estaly. Naopak, p\u0159id\u00e1valy se jin\u00e9. Po operaci \u0161ed\u00e9ho z\u00e1kalu na obou o\u010d\u00edch mu byl implantov\u00e1n prvn\u00ed kardiostimul\u00e1tor, prod\u011blal mozkovou p\u0159\u00edhodu. O rok pozd\u011bji mu l\u00e9ka\u0159i kone\u010dn\u011b diagnostikovali Fabryho nemoc a zah\u00e1jili adekv\u00e1tn\u00ed l\u00e9\u010dbu. „V\u00edm, \u017ee v\u011bt\u0161ina m\u00fdch zdravotn\u00edch pot\u00ed\u017e\u00ed byla zp\u016fsobena pr\u00e1v\u011b Fabryho chorobou. Proto jsem p\u0159esv\u011bd\u010den\u00fd o d\u016fle\u017eitosti v\u010dasn\u00e9 diagnostiky tohoto n\u011bkdy nen\u00e1padn\u00e9ho onemocn\u011bn\u00ed,“ \u0159\u00edk\u00e1 Bohuslav. I proto se Bohuslav zapojil do pr\u00e1ce t\u0159\u00ed pacientsk\u00fdch organizac\u00ed a pom\u00e1h\u00e1 ostatn\u00edm nemocn\u00fdm. „Pacienti s Fabryho nemoc\u00ed se mohou st\u00e1t \u010dleny pacientsk\u00e9 organizace META a \u010derpat pomoc a v\u011bdomosti ze spole\u010denstv\u00ed stejn\u011b posti\u017een\u00fdch lid\u00ed. Informovanost je pro toto vz\u00e1cn\u00e9 onemocn\u011bn\u00ed d\u016fle\u017eit\u00e1 ,medic\u00edna\u2018.“<\/p>\n
—<\/p>\n
Pokud se pacient neza\u010dne l\u00e9\u010dit v\u010das, hroz\u00ed mu t\u011b\u017ek\u00e9 ledvinov\u00e9 a srde\u010dn\u00ed komplikace i mozkov\u00e9 p\u0159\u00edhody.<\/p>\n
<\/p>\n
Kv\u011bty<\/p>\n","protected":false},"excerpt":{"rendered":"
Ne ka\u017ed\u00e9 d\u011bdictv\u00ed n\u00e1m mohou ostatn\u00ed z\u00e1vid\u011bt. Ani kdy\u017e jde o naprostou vz\u00e1cnost. Sv\u00e9 o tom v\u00ed pan Ji\u0159\u00ed (50). Po mamince zd\u011bdil Fabryho nemoc.<\/p>\n<\/div>","protected":false},"author":1,"featured_media":19372,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-25848","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-zpravy"],"_links":{"self":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/25848","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=25848"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/25848\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/19372"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=25848"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=25848"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=25848"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}