Kdy\u017e se glykogen hromad\u00ed ve svalech a po\u0161kozuje je. V\u010dasn\u00e1 diagn\u00f3za je kl\u00ed\u010dov\u00e1.<\/p>\n\n\n\n
V polovin\u011b dubna si ka\u017edoro\u010dn\u011b p\u0159ipom\u00edn\u00e1me Mezin\u00e1rodn\u00ed den Pompeho nemoci, vz\u00e1cn\u00e9ho genetick\u00e9ho onemocn\u011bn\u00ed, kter\u00e9 postupn\u011b oslabuje svaly a m\u016f\u017ee postihnout srdce i d\u00fdchac\u00ed syst\u00e9m. C\u00edlem t\u00e9to iniciativy je zv\u00fd\u0161it pov\u011bdom\u00ed o nemoci, upozornit na v\u00fdznam v\u010dasn\u00e9 diagn\u00f3zy a podpo\u0159it dostupnost modern\u00ed l\u00e9\u010dby pro pacienty i jejich rodiny.<\/p>\n\n\n\n
Pompeho nemoc pat\u0159\u00ed mezi tzv. lyzosom\u00e1ln\u00ed st\u0159\u00e1dav\u00e1 onemocn\u011bn\u00ed a m\u016f\u017ee se projevit jak v ran\u00e9m d\u011btstv\u00ed, tak i v dosp\u011blosti.<\/p>\n\n\n\n
Jej\u00ed p\u0159\u00edznaky jsou \u010dasto nen\u00e1padn\u00e9 \u2013 svalov\u00e1 slabost, \u00fanava nebo dechov\u00e9 obt\u00ed\u017ee, kter\u00e9 mohou b\u00fdt snadno zam\u011bn\u011bny za jin\u00e9 diagn\u00f3zy.<\/p>\n\n\n\n
Stanoven\u00ed spr\u00e1vn\u00e9 diagn\u00f3zy tak m\u016f\u017ee trvat i roky. V \u010cesk\u00e9 republice zabere v pr\u016fm\u011bru dokonce p\u011bt let, n\u011bkdy i d\u00e9le.<\/p>\n\n\n\n
15. dubna p\u0159ipom\u00edn\u00e1me Mezin\u00e1rodn\u00ed den Pompeho nemoci.<\/p>\n\n\n\n
Pompeho nemoc je vz\u00e1cn\u00e9 genetick\u00e9 onemocn\u011bn\u00ed, kter\u00e9 m\u016f\u017ee m\u00edt podobn\u00e9 p\u0159\u00edznaky a projevy jako jin\u00e1, b\u011b\u017en\u011bj\u0161\u00ed posti\u017een\u00ed sval\u016f. Diagnostika je tak velmi obt\u00ed\u017en\u00e1. Pacienti maj\u00ed mnohdy probl\u00e9my s ch\u016fz\u00ed do schod\u016f \u010di p\u0159i vst\u00e1v\u00e1n\u00ed ze \u017eidle. Pohybuj\u00ed se kol\u00edsavou ch\u016fz\u00ed. Pot\u00ed\u017ee jim d\u011blaj\u00ed tak\u00e9 drobn\u011bj\u0161\u00ed manu\u00e1ln\u00ed pr\u00e1ce. P\u0159i tomto vz\u00e1cn\u00e9m onemocn\u011bn\u00ed se hromad\u00ed glykogen v bu\u0148k\u00e1ch \u2013 hlavn\u011b ve svalech \u2013 kter\u00e9 postoupn\u011b po\u0161kozuje, \u010d\u00edm\u017e doch\u00e1z\u00ed k jejich sl\u00e1bnut\u00ed.<\/p>\n\n\n\n
\u201ePompeho nemoc je progresivn\u00ed onemocn\u011bn\u00ed, u kter\u00e9ho hraje \u010das z\u00e1sadn\u00ed roli. \u010c\u00edm d\u0159\u00edve se poda\u0159\u00ed nemoc odhalit, t\u00edm v\u011bt\u0161\u00ed m\u00e1me \u0161anci ovlivnit jej\u00ed pr\u016fb\u011bh a zachovat pacient\u016fm co nejvy\u0161\u0161\u00ed kvalitu \u017eivota,\u201c \u0159\u00edk\u00e1 MUDr. Stanislav Voh\u00e1\u0148ka, CSc., MBA z Neurologick\u00e9 kliniky LF MU a FN u sv. Anny v Brn\u011b. \u201eV klinick\u00e9 praxi se v\u0161ak st\u00e1le setk\u00e1v\u00e1me s pacienty, u nich\u017e diagn\u00f3za p\u0159ich\u00e1z\u00ed pozd\u011b. P\u0159itom dnes m\u00e1me k dispozici diagnostick\u00e9 metody i l\u00e9\u010dbu, kter\u00e9 mohou z\u00e1sadn\u011b zm\u011bnit progn\u00f3zu onemocn\u011bn\u00ed,\u201c dopl\u0148uje.<\/p>\n\n\n\n
Sta\u010d\u00ed \u010dty\u0159i kapky krve<\/p>\n\n\n\n
Diagnostika Pompeho nemoci je dnes p\u0159itom dostupn\u011bj\u0161\u00ed a jednodu\u0161\u0161\u00ed ne\u017e kdy d\u0159\u00edve. Podez\u0159en\u00ed lze ov\u011b\u0159it pomoc\u00ed tzv. testu ze such\u00e9 kapky krve (DBS \u2013 dried blood spot), kter\u00fd umo\u017e\u0148uje l\u00e9ka\u0159\u016fm v\u0161ech specializac\u00ed rychle a neinvazivn\u011b vylou\u010dit n\u011bkter\u00e1 lyzosom\u00e1ln\u00ed st\u0159\u00e1dav\u00e1 onemocn\u011bn\u00ed. K jeho proveden\u00ed sta\u010d\u00ed pouh\u00e9 \u010dty\u0159i kapky krve z prstu nanesen\u00e9 na speci\u00e1ln\u00ed filtra\u010dn\u00ed pap\u00edrek. Vysu\u0161en\u00fd vzorek se n\u00e1sledn\u011b odes\u00edl\u00e1 po\u0161tou do specializovan\u00e9 laborato\u0159e, kde je analyzov\u00e1n.<\/p>\n\n\n\n
\u201eMetoda testu ze such\u00e9 kapky krve p\u0159edstavuje pro l\u00e9ka\u0159e praktick\u00fd n\u00e1stroj, jak Pompeho nemoc odhalit ji\u017e v \u010dasn\u00fdch f\u00e1z\u00edch. Pompeho nemoc p\u0159itom pat\u0159\u00ed mezi vz\u00e1cn\u00e1 geneticky podm\u00edn\u011bn\u00e1 svalov\u00e1 onemocn\u011bn\u00ed, kter\u00e1 dnes dok\u00e1\u017eeme c\u00edlen\u011b l\u00e9\u010dit. D\u00edky v\u010dasn\u00e9mu z\u00e1chytu m\u016f\u017eeme pacienty rychle nasm\u011brovat k dal\u0161\u00edmu vy\u0161et\u0159en\u00ed a zah\u00e1jit terapii bez zbyte\u010dn\u00fdch prodlev. V\u010dasn\u00e9 stanoven\u00ed diagn\u00f3zy je z\u00e1sadn\u00ed, proto\u017ee l\u00e9\u010dba m\u016f\u017ee zpomalit progresi onemocn\u011bn\u00ed, ale nedok\u00e1\u017ee zvr\u00e1tit ji\u017e vznikl\u00e9 svalov\u00e9 po\u0161kozen\u00ed,\u201c vysv\u011btluje MUDr. L\u00edvie Mensov\u00e1 z Neurologick\u00e9 kliniky 2. LF UK a FNMH Motol. \u201eZ\u00e1sadn\u00ed je tak\u00e9 zvy\u0161ov\u00e1n\u00ed pov\u011bdom\u00ed mezi l\u00e9ka\u0159i i ve\u0159ejnost\u00ed. \u010c\u00edm v\u00edce budeme o tomto onemocn\u011bn\u00ed v\u011bd\u011bt, t\u00edm m\u00e9n\u011b pacient\u016f z\u016fstane bez spr\u00e1vn\u00e9 diagn\u00f3zy,\u201c dod\u00e1v\u00e1.<\/p>\n\n\n\n
Mal\u00e1 bojovnice s velk\u00fdm srdcem<\/p>\n\n\n\n
Z\u00e1ludnost Pompeho nemoci ilustruje p\u0159\u00edb\u011bh mal\u00e9 Roz\u00e1rky Gajarsk\u00e9. Narodila se v \u010dervnu 2021 jako zdrav\u00e9 miminko. Prvn\u00ed m\u011bs\u00edce jej\u00edho \u017eivota byly bez komplikac\u00ed. Zlom p\u0159i\u0161el kolem t\u0159et\u00edho m\u011bs\u00edce, kdy se p\u0159estala vyv\u00edjet tak, jak by m\u011bla. \u201eNajednou p\u0159estala m\u00edt snahu p\u00e1st kon\u00ed\u010dky a jen klidn\u011b le\u017eela. M\u011bla zv\u011bt\u0161en\u00fd jazyk, na doporu\u010den\u00ed pediatri\u010dky jsme j\u00ed nechali ust\u0159ihnout uzdi\u010dku, tak\u00e9 jsme za\u010dali chodit na rehabilitace a cvi\u010dit Vojtovu metodu, ale nic z toho moc nepom\u00e1halo. P\u0159ed \u010dtvrt\u00fdm m\u011bs\u00edcem n\u00e1s pan\u00ed doktorka poslala do nemocnice na kardiologick\u00e9 vy\u0161et\u0159en\u00ed, proto\u017ee Roz\u00e1rka divn\u011b d\u00fdchala,\u201c za\u010d\u00edn\u00e1 sv\u00e9 vypr\u00e1v\u011bn\u00ed Veronika Gajarsk\u00e1, maminka dnes t\u00e9m\u011b\u0159 p\u011btilet\u00e9 Roz\u00e1rky. <\/p>\n\n\n\n
\u201eV nemocnici n\u00e1s okam\u017eit\u011b poslali na rentgen a pot\u00e9 do Motola na kardiologii. Tady se u Roz\u00e1rky vyst\u0159\u00eddalo hodn\u011b doktor\u016f a my u\u017e jsme za\u010dali tu\u0161it, \u017ee je n\u011bco \u0161patn\u011b. Uk\u00e1zalo se, \u017ee mal\u00e1 m\u011bla srd\u00ed\u010dko zv\u011bt\u0161en\u00e9 o 400 % a fungovalo na pouh\u00fdch 20 %, plus m\u011bla vodu na plic\u00edch. Metodou such\u00e9 kapky krve se nakonec potvrdilo podez\u0159en\u00ed na metabolickou poruchu, a sice infantiln\u00ed formu Pompeho nemoci. V\u0161ude se do\u010dtete, \u017ee bez l\u00e9\u010dby se d\u011bti nedo\u017eij\u00ed jednoho roku \u017eivota,\u201c pokra\u010duje pan\u00ed Gajarsk\u00e1.<\/p>\n\n\n\n
N\u00e1sledn\u011b malou Roz\u00e1rku p\u0159evezli do VFN v Praze, kde se na vz\u00e1cn\u00e1 onemocn\u011bn\u00ed specializuj\u00ed. \u201eZa\u010dal t\u00edm sice n\u00e1\u0161 boj, ale u\u017e jsme v\u011bd\u011bli, \u017ee l\u00e9\u010dba existuje a je dostupn\u00e1. To n\u00e1s tro\u0161ku uklid\u0148ovalo, \u017ee \u0161ance na p\u0159e\u017eit\u00ed je. Po p\u016fl roce se R\u00f3ze zlep\u0161ilo i srd\u00ed\u010dko. Pot\u00e9 u\u017e nemusela m\u00edt kysl\u00edk a jej\u00ed stav se pomalu vracel do norm\u00e1lu. Pot\u00e9 jsme mohli kone\u010dn\u011b pomalu za\u010d\u00edt cvi\u010dit. Je to na\u0161e mal\u00e1 bojovnice s velk\u00fdm srdcem,\u201c uzav\u00edr\u00e1 p\u0159\u00edb\u011bh sv\u00e9 dcery a rodiny pan\u00ed Gajarsk\u00e1. Dnes pravideln\u011b doch\u00e1z\u00ed na infuzn\u00ed l\u00e9\u010dbu, a i p\u0159es p\u0159etrv\u00e1vaj\u00edc\u00ed omezen\u00ed d\u011bl\u00e1 pokroky.<\/p>\n\n\n\n
V\u00fdzvy p\u0159etrv\u00e1vaj\u00ed<\/p>\n\n\n\n
P\u0159esto\u017ee se diagnostika i l\u00e9\u010dba Pompeho nemoci v posledn\u00edch letech v\u00fdrazn\u011b posunuly, st\u00e1le existuj\u00ed p\u0159ek\u00e1\u017eky. Mezi hlavn\u00ed pat\u0159\u00ed n\u00edzk\u00e9 pov\u011bdom\u00ed o onemocn\u011bn\u00ed a zdlouhav\u00e1 cesta k diagn\u00f3ze. Mezin\u00e1rodn\u00ed den Pompeho nemoci proto ka\u017edoro\u010dn\u011b upozor\u0148uje na pot\u0159ebu v\u010dasn\u00e9ho rozpozn\u00e1n\u00ed p\u0159\u00edznak\u016f, lep\u0161\u00ed dostupnosti diagnostiky, podpory v\u00fdzkumu a inovativn\u00ed l\u00e9\u010dby a komplexn\u00ed p\u00e9\u010de o pacienty i jejich rodiny.<\/p>\n\n\n\n
Sanofi a dlouhodob\u00fd z\u00e1vazek<\/p>\n\n\n\n
Spole\u010dnost Sanofi se ji\u017e v\u00edce ne\u017e 40 let v\u011bnuje v\u00fdzkumu a v\u00fdvoji l\u00e9\u010dby vz\u00e1cn\u00fdch onemocn\u011bn\u00ed, v\u010detn\u011b Pompeho nemoci. \u201eV\u010dasn\u00e1 diagn\u00f3za a osv\u011bta je kl\u00ed\u010dov\u00e1. Na\u0161\u00edm c\u00edlem je zkracovat cestu pacient\u016f k diagn\u00f3ze a zajistit, aby se k \u00fa\u010dinn\u00e9 l\u00e9\u010db\u011b dostali co nejd\u0159\u00edve. Ka\u017ed\u00fd den bez spr\u00e1vn\u00e9 diagn\u00f3zy m\u016f\u017ee znamenat nevratn\u00e9 po\u0161kozen\u00ed zdrav\u00ed,\u201c \u0159\u00edk\u00e1 Ondrej Kri\u017ealkovi\u010d, kter\u00fd se v Sanofi problematikou vz\u00e1cn\u00fdch nemoc\u00ed zab\u00fdv\u00e1. \u201eV\u011b\u0159\u00edme, \u017ee kombinace inovac\u00ed, spolupr\u00e1ce s odborn\u00edky a zvy\u0161ov\u00e1n\u00ed pov\u011bdom\u00ed m\u016f\u017ee z\u00e1sadn\u011b zm\u011bnit \u017eivot pacient\u016f i jejich rodin.\u201c<\/p>\n\n\n\n
O spole\u010dnosti Sanofi<\/p>\n\n\n\n
Sanofi je biofarmaceutick\u00e1 spole\u010dnost zam\u011b\u0159en\u00e1 na v\u00fdzkum a v\u00fdvoj s vyu\u017eit\u00edm um\u011bl\u00e9 inteligence usiluj\u00edc\u00ed o zlep\u0161en\u00ed \u017eivot\u016f lid\u00ed a udr\u017eiteln\u00fd r\u016fst. Na\u0161e rozs\u00e1hl\u00e9 znalosti imunitn\u00edho syst\u00e9mu uplat\u0148ujeme p\u0159i v\u00fdvoji p\u0159\u00edpravk\u016f a vakc\u00edn, je\u017e l\u00e9\u010d\u00ed a chr\u00e1n\u00ed miliony lid\u00ed po cel\u00e9m sv\u011bt\u011b. Inovativn\u00ed p\u0159\u00edpravky, na jejich\u017e v\u00fdvoji pracujeme, mohou pomoci dal\u0161\u00edm milion\u016fm lid\u00ed. N\u00e1\u0161 t\u00fdm sleduje jedin\u00fd c\u00edl: tvo\u0159it z\u00e1zraky v\u011bdy, kter\u00e9 zlep\u0161uj\u00ed \u017eivoty lid\u00ed. To n\u00e1s inspiruje k dosahov\u00e1n\u00ed a zvy\u0161ov\u00e1n\u00ed pokroku i k pozitivn\u00edmu dopadu na na\u0161e zam\u011bstnance a komunity, jim\u017e slou\u017e\u00edme, t\u00edm, \u017ee se v\u011bnujeme nejpal\u010div\u011bj\u0161\u00edm v\u00fdzv\u00e1m ve zdravotnictv\u00ed, ekologii a soci\u00e1ln\u00ed oblasti.<\/p>\n\n\n\n
Sanofi je kotov\u00e1na na burze EURONEXT: SAN a NASDAQ: SNY.<\/p>\n\n\n\n
Den\u00edk.cz<\/p>\n\n\n\n
https:\/\/pr.denik.cz<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" Kdy\u017e se glykogen hromad\u00ed ve svalech a po\u0161kozuje je. V\u010dasn\u00e1 diagn\u00f3za je kl\u00ed\u010dov\u00e1. V polovin\u011b dubna si ka\u017edoro\u010dn\u011b p\u0159ipom\u00edn\u00e1me Mezin\u00e1rodn\u00ed den Pompeho nemoci, vz\u00e1cn\u00e9ho genetick\u00e9ho […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":61620,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-63640","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\/63640","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=63640"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/63640\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/61620"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=63640"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=63640"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=63640"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}