\u017dij\u00ed mezi n\u00e1mi lid\u00e9, kte\u0159\u00ed trp\u00ed vz\u00e1cn\u00fdmi chorobami. Pat\u0159\u00ed k nim i Pompeho nemoc. V \u010cesk\u00e9 republice je diagnostikov\u00e1na dvaceti pacient\u016fm. P\u0159esto je t\u00e9matem k hovoru.<\/p>\n
Pan\u00ed Hana byla cel\u00fd \u017eivot zdrav\u00e1.
\nA\u017e v t\u00e9m\u011b\u0159 sedmdes\u00e1ti letech ji zradilo t\u011blo. „B\u011bhem v\u00fdletu na b\u011b\u017ek\u00e1ch jsem si najednou netroufl a na sjezd, kter\u00fd mi d\u0159\u00edv ned\u011blal probl\u00e9my,“ \u0159\u00edk\u00e1. Ano, st\u00e1v\u00e1 se to i mnohem mlad\u0161\u00edm lidem. Jen\u017ee Hanka tvrd\u00ed: „Jsem \u017eensk\u00e1 do nepohody a n\u011bco vydr\u017e\u00edm. Nav\u00edc v\u00edm, \u017ee st\u00e1\u0159\u00ed p\u0159ich\u00e1z\u00ed v na\u0161\u00ed rodin\u011b pozvolna. A ne b\u011bhem jednoho dopoledne,“ popisuje situaci, kdy musela bojovat s nezn\u00e1mou slabost\u00ed. L\u00e9ka\u0159i si zpo\u010d\u00e1tku nev\u011bd\u011bli rady.
\nHanka si neust\u00e1le st\u011b\u017eovala na bolest p\u00e1te\u0159e a nohou. Nepomohly l\u00e1zn\u011b, rehabilitace, bez v\u00fdsledk\u016f byla i vy\u0161et\u0159en\u00ed na neurologii, ortopedii, odd\u011blen\u00ed pro l\u00e9\u010dbu bolesti. Ani diagnostick\u00e9 metody jako EMG, CT, MRI nebo biopsie neuk\u00e1zaly p\u0159\u00ed\u010dinu jej\u00edch pot\u00ed\u017e\u00ed.<\/p>\n
Po dlouh\u00e9 dob\u011b p\u0159i\u0161la nad\u011bje<\/p>\n
V roce 2012 poslali l\u00e9ka\u0159i pan\u00ed Hanu do Revmatologick\u00e9ho \u00fastavu Na Slupi.
\n„Tamn\u00ed pan\u00ed doktorka Sisol m\u011b prohl\u00e9dla a zkonstatovala, \u017ee k nim rozhodn\u011b nepat\u0159\u00edm,“ popisuje pan\u00ed Hana s t\u00edm, \u017ee tato l\u00e9ka\u0159ka ji doporu\u010dila do Centra pro nervosvalov\u00e1 onemocn\u011bn\u00ed Neurologick\u00e9 kliniky 1. LF UK a VFN v Praze. „Mlad\u00fd p\u0159\u00edjemn\u00fd pan doktor Kalous m\u011b vyslechl, vy\u0161et\u0159il a pozval na odb\u011br krve. Po letech jsem potkala \u010dlov\u011bka, kter\u00fd v\u011b\u0159il, \u017ee mi n\u011bco je,“ vzpom\u00edn\u00e1 pan\u00ed Hana na okam\u017eik, kdy j\u00ed svitla nad\u011bje. B\u011bhem dvou m\u011bs\u00edc\u016f j\u00ed provedl testy s pomoc\u00ed such\u00e9 kapky krve a nasm\u011broval j\u00ed do \u00dastavu d\u011bdi\u010dn\u00fdch metabolick\u00fdch chorob, kde kone\u010dn\u011b stanovili diagn\u00f3zu: Pompeho nemoc.<\/p>\n
P\u0159\u00edb\u011bh pana \u0160tefana<\/p>\n
Kv\u016fli ztuhlosti svalstva nedok\u00e1zal \u0160tefan ani vst\u00e1t z postele. L\u00e9ka\u0159i jej pova\u017eovali za simulanta. Jeho zdravotn\u00ed probl\u00e9my neust\u00e1valy. Naopak se zhor\u0161ovaly a p\u0159idaly se i pot\u00ed\u017ee s d\u00fdch\u00e1n\u00edm. Nenechal se odb\u00fdt, ale ani po s\u00e9rii vy\u0161et\u0159en\u00ed, \u0161patn\u00fdch diagn\u00f3z a hospitalizac\u00ed si s n\u00edm l\u00e9ka\u0159i nev\u011bd\u011bli rady. \u0160tefan tr\u00e1vil v \u010dek\u00e1rn\u00e1ch l\u00e9ka\u0159\u016f po cel\u00e9 zemi dlouh\u00e9 t\u00fddny – st\u00e1le bez v\u00fdsledku. „Nikdo nev\u011bd\u011bl, co mi je. \u0160patn\u011b jsem d\u00fdchal, a to u\u017e i vsed\u011b. Sp\u00e1nek nest\u00e1l za nic, proto\u017ee jakmile jsem si lehl, dusil jsem se,“ vzpom\u00edn\u00e1. A\u017e se ho v plicn\u00edm sanatoriu ujal mlad\u00fd pan doktor a b\u011bhem jedn\u00e9 hodiny m\u011bl diagn\u00f3zu hotovou: par\u00e9za br\u00e1nice. „T\u00edm se vysv\u011btlila du\u0161nost, ov\u0161em p\u0159\u00ed\u010dinu jsme st\u00e1le neznali,“ \u0159\u00edk\u00e1 \u0160tefan. Jak \u0161el \u010das, d\u00e1l se mu zhor\u0161ovaly probl\u00e9my s pohyblivost\u00ed, bojoval s poruchami rovnov\u00e1hy i soust\u0159ed\u011bn\u00ed, se ztr\u00e1tou pam\u011bti a nen\u00ed divu, \u017ee se p\u0159idaly i deprese. „Moje pohyblivost u\u017e byla velmi \u0161patn\u00e1, partnerka m\u011b musela obl\u00e9kat a n\u011bkdy i zvedat ze \u017eidle,“ vzpom\u00edn\u00e1. Neurolo\u017eka MUDr. Pat\u00e1kov\u00e1 z ho\u0159ovick\u00e9 nemocnice se nevzd\u00e1vala a usilovn\u011b hledala spr\u00e1vnou diagn\u00f3zu. A na\u0161la: Pompeho nemoc. Vz\u00e1cn\u00e9 onemocn\u011bn\u00ed, kter\u00e9 m\u00e1 tak m\u00e1lo lid\u00ed, \u017ee jej mnoz\u00ed l\u00e9ka\u0159i neznaj\u00ed. A v\u011bt\u0161ina z nich ho nepozn\u00e1.<\/p>\n
Vz\u00e1cn\u00e1 Pompeho nemoc<\/p>\n
Z\u00e1ludnost t\u00e9to choroby spo\u010d\u00edv\u00e1 p\u0159edev\u0161\u00edm v tom, \u017ee r\u016fzn\u00fdch onemocn\u011bn\u00ed, kter\u00e9 postihuj\u00ed svalstvo, je asi sedm set. A Pompeho nemoc je tak vz\u00e1cn\u00e1, \u017ee se s n\u00ed l\u00e9ka\u0159i v praxi prakticky nesetk\u00e1vaj\u00ed. Odhalili ji asi u dvac\u00edtky \u010cech\u016f. P\u0159esto\u017ee je u n\u00e1s lid\u00ed s touto nemoc\u00ed v\u00edc, svou diagn\u00f3zu neznaj\u00ed.
\nNa pr\u016fb\u011bh choroby toti\u017e p\u016fsob\u00ed \u0159ada i dosud nezn\u00e1m\u00fdch faktor\u016f. Existuj\u00ed pacienti, kte\u0159\u00ed maj\u00ed jen lehk\u00fd pokles produkce enzymu zvan\u00e9ho kysel\u00e1 malt\u00e1za a maj\u00ed t\u011b\u017ek\u00e9 p\u0159\u00edznaky choroby. A jsou jin\u00ed, kte\u0159\u00ed maj\u00ed velk\u00fd pokes tohoto enzymu a poci\u0165uj\u00ed jen lehk\u00e9 p\u0159\u00edznaky. L\u00e9ta m\u016f\u017ee Pompeho nemoc prob\u00edhat \u00fapln\u011b bez p\u0159\u00edznak\u016f. Podobn\u011b jako u pan\u00ed Hany.
\nPompeho nemoc se toti\u017e projevuje u ka\u017ed\u00e9ho jinak. Postihuje i d\u011bti, ale u t\u011bch se pozn\u00e1 podle zv\u011bt\u0161en\u00fdch jater a srdce. A pediat\u0159i znaky st\u0159\u00e1dav\u00fdch chorob, mezi n\u011b\u017e Pompeho nemoc pat\u0159\u00ed, znaj\u00ed a mysl\u00ed na n\u011b. U dosp\u011bl\u00fdch je diagnostika slo\u017eit\u011bj\u0161\u00ed. A p\u0159itom sta\u010d\u00ed kapka krve a rychl\u00fd test.<\/p>\n
Konec dobr\u00fd, v\u0161echno dobr\u00e9<\/p>\n
„L\u00e9ka\u0159i se p\u0159ikl\u00e1n\u011bli k tomu, \u017ee l\u00e9\u010dba moji nemoc pouze zastav\u00ed, ale j\u00e1 jsem se za\u010dal docela rychle lep\u0161it,“ popisuje \u0160tefan, kter\u00fd p\u00e1t\u00fdm rokem doj\u00ed\u017ed\u00ed na infuze. C\u00edt\u00ed se mnohem l\u00e9pe, i kdy\u017e mus\u00ed absolvovat rehabilitace a v\u011bnovat se posilov\u00e1n\u00ed ochabl\u00fdch sval\u016f. T\u011b\u017ek\u00fd n\u00e1kup do schod\u016f tak\u00e9 nevynese.
\n„Jen\u017ee kdy\u017e si \u010dlov\u011bk uv\u011bdom\u00ed, \u017ee u\u017e jsem tu tak\u00e9 nemusel b\u00fdt anebo bych byl le\u017e\u00e1k s um\u011blou ventilac\u00ed, tak si mysl\u00edm, \u017ee to dopadlo je\u0161t\u011b dob\u0159e,“ neztr\u00e1c\u00ed optimizmus \u0160tefan. Podobn\u011b jako pan\u00ed Hana, nejstar\u0161\u00ed pacientka s Pompeho nemoc\u00ed v \u010cesk\u00e9 republice. Od po\u010d\u00e1tku roku 2014 doch\u00e1z\u00ed tahle state\u010dn\u00e1 d\u00e1ma dvakr\u00e1t m\u011bs\u00ed\u010dn\u011b do Stacion\u00e1\u0159e pro l\u00e9\u010dbu poruch metabolizmu na Kliniku d\u011btsk\u00e9ho a dorostov\u00e9ho l\u00e9ka\u0159stv\u00ed 1. LF UK a VFN v Praze. „Stacion\u00e1\u0159 vede pan\u00ed doktorka V\u011bra Malinov\u00e1, kter\u00e1 se velmi zaslou\u017eila o n\u00e1ro\u010dn\u00e9 vy\u0159izov\u00e1n\u00ed v\u0161ech dal\u0161\u00edch od\u016fvodn\u011bn\u00ed m\u00e9 choroby s poji\u0161\u0165ovnou, nemocnic\u00ed a dal\u0161\u00edmi institucemi. Jsem j\u00ed opravdu vd\u011b\u010dn\u00e1 za lidsk\u00fd p\u0159\u00edstup k n\u00e1m v\u0161em pacient\u016fm. A sest\u0159i\u010dk\u00e1m pat\u0159\u00ed d\u00edk za p\u0159\u00edjemn\u00e9 prost\u0159ed\u00ed ve stacion\u00e1\u0159i,“ \u0159\u00edk\u00e1 pan\u00ed Hana, kter\u00e1 se um\u00ed radovat ze \u017eivota a je vd\u011b\u010dn\u00e1 za ka\u017ed\u00fd den.<\/p>\n
O nemoci<\/p>\n
Pompeho nemoc je pojmenovan\u00e1 po nizozemsk\u00e9m patologovi Dr. Joannesovi Cassianusovi Pompem, kter\u00fd ji popsal ve 30. letech 20. stolet\u00ed. Jde o d\u011bdi\u010dnou chorobu. Pokud se narod\u00ed d\u00edt\u011b zdrav\u00fdm p\u0159ena\u0161e\u010d\u016fm, je 25% pravd\u011bpodobnost, \u017ee bude nemocn\u00e9, 25% pravd\u011bpodobnost, \u017ee bude zdrav\u00e9, a 50%, \u017ee bude p\u0159ena\u0161e\u010dem t\u00e9to choroby. U dosp\u011bl\u00fdch je pr\u016fb\u011bh Pompeho nemoci v\u011bt\u0161inou velmi pomal\u00fd. Kojeneck\u00e1 forma je mnohem agresivn\u011bj\u0161\u00ed. Pokud se l\u00e9\u010dba nezah\u00e1j\u00ed v\u010das, v\u011bt\u0161ina d\u011bt\u00ed zem\u0159e. Substitu\u010dn\u00ed l\u00e9\u010dba se objevila na po\u010d\u00e1tku tohoto tis\u00edcilet\u00ed. Prvn\u00ed pacienti se za\u010dali l\u00e9\u010dit zhruba p\u0159ed osmi lety. D\u0159\u00edve byli nemocn\u00ed odk\u00e1z\u00e1ni na podp\u016frnou terapii, invalidn\u00ed voz\u00edk a na konci na d\u00fdchac\u00ed p\u0159\u00edstroj. Vz\u00e1cn\u00fdch diagn\u00f3z je na 5,5 tis\u00edce. N\u011bkterou chorobu m\u00e1 v \u010cR t\u0159eba jen p\u011bt lid\u00ed nebo jen jedna rodina.
\nV p\u0159\u00edpadech vz\u00e1cn\u00fdch onemocn\u011bn\u00ed pom\u00e1h\u00e1 nov\u011b se rozv\u00edjej\u00edc\u00ed obor -bioinformatika. V\u00edce informac\u00ed najdete na http:\/\/vzacni.cz\/pompeho-nemoc\/.<\/p>\n
—<\/p>\n
MUDr. Stanislav Voh\u00e1\u0148ka, CSc., MBA, prim\u00e1\u0159 Neurologick\u00e9 kliniky LF MU a FN Brno, expert na vz\u00e1cn\u00e1 svalov\u00e1 onemocn\u011bn\u00ed<\/p>\n
Co je Pompeho nemoc?<\/p>\n
Jde o vz\u00e1cnou nemoc, p\u0159i n\u00ed\u017e doch\u00e1z\u00ed ke st\u0159\u00e1d\u00e1n\u00ed glykogenu. T\u011blo nem\u00e1 dostatek enzymu, kter\u00fd by ho odboural, \u010d\u00edm\u017e doch\u00e1z\u00ed k jeho hromad\u011bn\u00ed, po\u0161kozov\u00e1n\u00ed bun\u011bk a jejich z\u00e1niku. Jde o genetickou poruchu, kdy z\u00e1le\u017e\u00ed na m\u00ed\u0159e po\u0161kozen\u00ed genu. Velk\u00fd defi cit znamen\u00e1, \u017ee se nemoc projev\u00ed u\u017e v kojeneck\u00e9m v\u011bku, p\u0159i men\u0161\u00edm stupni poruchy se m\u016f\u017ee choroba objevit kdykoliv v dosp\u011blosti. U n\u011bkoho ve dvaceti, u jin\u00e9ho v \u0161edes\u00e1ti letech.<\/p>\n
– Pop\u00ed\u0161ete n\u00e1m jej\u00ed p\u0159\u00edznaky?<\/p>\n
Pokud nemoc propukne v ran\u00e9m d\u011btstv\u00ed, m\u00e1 pacient velmi z\u00e1va\u017enou svalovou slabost. Nav\u00edc m\u00e1 zv\u011bt\u0161en\u00e1 j\u00e1tra a srdce. U d\u011bt\u00ed je diagnostika v p\u0159\u00edpad\u011b t\u00e9to choroby snaz\u0161\u00ed ne\u017e u dosp\u011bl\u00fdch. Ti maj\u00ed po\u0161kozen\u00e9 pouze kostern\u00ed svaly, tak\u017ee nemoc m\u00e1 obraz pom\u011brn\u011b nespecifick\u00e9ho svalov\u00e9ho po\u0161kozen\u00ed.<\/p>\n
– Jak\u00fd je pr\u016fb\u011bh choroby?<\/p>\n
U n\u011bkoho postupuje rychle, u jin\u00e9ho pomaleji. N\u011bkte\u0159\u00ed pacienti prim\u00e1rn\u011b ztr\u00e1c\u00ed s\u00edlu na ko\u0159enov\u00e9m svalstvu, jin\u00ed na d\u00fdchac\u00edm. \u0160patn\u011b chod\u00ed do schod\u016f, t\u011b\u017eko vst\u00e1vaj\u00ed z n\u00edzk\u00e9 \u017eidle nebo se nedok\u00e1\u017eou postavit ze d\u0159epu. Postupn\u011b u nich vznikaj\u00ed pot\u00ed\u017ee s dechem. Pr\u016fb\u011bh Pompeho nemoci je velmi individu\u00e1ln\u00ed.<\/p>\n
– Jak je mo\u017en\u00e9 ji poznat?<\/p>\n
Mus\u00edme ud\u011blat diagnostick\u00e9 laboratorn\u00ed testy. Mnoho pacient\u016f \u010dasto zbyte\u010dn\u011b absolvuje velk\u00e9 mno\u017estv\u00ed vy\u0161et\u0159en\u00ed. V pr\u016fm\u011bru trv\u00e1 asi osm let, ne\u017e se dostanou do p\u00e9\u010de specialist\u016f, kte\u0159\u00ed mohou Pompeho nemoc potvrdit.<\/p>\n
– Je diagnostika slo\u017eit\u00e1? V\u016fbec ne. V sou\u010dasn\u00e9 dob\u011b testujeme pomoc\u00ed tzv. such\u00e9 krevn\u00ed kapky, kdy se z p\u00e1r kapek krve stanov\u00ed hladina problematick\u00e9ho enzymu. Je to rychl\u00e9 a velmi spolehliv\u00e9.<\/p>\n
– Kam se tedy obr\u00e1tit?<\/p>\n
V sou\u010dasn\u00e9 dob\u011b se diagnostice svalov\u00fdch chorob v\u011bnuje dev\u011bt neuromuskul\u00e1rn\u00edch center v \u010cR.<\/p>\n
– V \u010dem spo\u010d\u00edv\u00e1 l\u00e9\u010dba?<\/p>\n
Jednou za 14 dn\u016f dostane pacient infuzi s l\u00e9kem.<\/p>\n
– Dok\u00e1\u017ee l\u00e9\u010dba z\u00e1zraky?<\/p>\n
Jedn\u00e1 se o substitu\u010dn\u00ed l\u00e9\u010dbu, to znamen\u00e1, \u017ee pacientovi dod\u00e1v\u00e1me chyb\u011bj\u00edc\u00ed enzym, aby se t\u011blo mohlo vypo\u0159\u00e1dat s ulo\u017een\u00fdm glykogenem. U dosp\u011bl\u00fdch dok\u00e1\u017ee chorobu zastavit tam, kde je. Doch\u00e1z\u00ed k \u010d\u00e1ste\u010dn\u00e9mu zlep\u0161en\u00ed. Sou\u010dasn\u00e1 l\u00e9\u010dba v\u0161ak pacienta neuzdrav\u00ed, proto\u017ee po\u0161kozen\u00e9 bu\u0148ky, kter\u00e9 u\u017e zanikly, obnovit nedok\u00e1\u017ee.<\/p>\n
– Pom\u00e1h\u00e1 dobr\u00fd \u017eivotn\u00ed styl?<\/p>\n
Lidem s d\u011bdi\u010dn\u00fdmi svalov\u00fdmi chorobami kondi\u010dn\u00ed rehabilitace prosp\u00edv\u00e1. Ale nen\u00ed \u0161ance, \u017ee by se nemoci cvi\u010den\u00edm zbavili. Je dobr\u00e9 cvi\u010dit, ale nep\u0159et\u011b\u017eovat se.<\/p>\n
Libu\u0161e Ve\u010de\u0159ov\u00e1
\nKatka<\/p>\n","protected":false},"excerpt":{"rendered":"
\u017dij\u00ed mezi n\u00e1mi lid\u00e9, kte\u0159\u00ed trp\u00ed vz\u00e1cn\u00fdmi chorobami. Pat\u0159\u00ed k nim i Pompeho nemoc. V \u010cesk\u00e9 republice je diagnostikov\u00e1na dvaceti pacient\u016fm. P\u0159esto je t\u00e9matem k […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":13142,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-26533","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\/26533","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=26533"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/26533\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/13142"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=26533"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=26533"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=26533"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}