Pro d\u011bdi\u010dn\u00e9 metabolick\u00e9 poruchy bohu\u017eel neexistuje jednoduch\u00e9 krit\u00e9rium, podle n\u011bho\u017e by bylo snadn\u00e9 je odhalit. Pot\u00ed\u017e je v tom, \u017ee mohou postihovat kter\u00fdkoli org\u00e1n, ve kter\u00e9mkoli v\u011bku a v jak\u00e9koli kombinaci s posti\u017een\u00edm jin\u00fdch org\u00e1n\u016f. Neexistuje tedy \u017e\u00e1dn\u00e9 jednoduch\u00e9 krit\u00e9rium, podle n\u011bho\u017e by l\u00e9ka\u0159 v praxi m\u011bl v prv\u00e9 \u0159ad\u011b pomyslet na metabolickou vadu.<\/p>\n
Spletitou a tak trochu tajemnou oblast d\u011bdi\u010dn\u00fdch metabolick\u00fdch poruch (DMP), kter\u00e9 pat\u0159\u00ed mezi vz\u00e1cn\u00e1 onemocn\u011bn\u00ed, se pokusil p\u0159ibl\u00ed\u017eit prof. MUDr. Viktor Ko\u017eich, CSc. z Kliniky pediatrie a d\u011bdi\u010dn\u00fdch poruch metabolismu 1. LF a VFN<\/span><\/p>\n – co si \u010dten\u00e1\u0159i maj\u00ed pod pojmem d\u011bdi\u010dn\u00e9 metabolick\u00e9 poruchy p\u0159edstavit?<\/p>\n Spole\u010dn\u00fdm rysem cel\u00e9 t\u00e9to skupiny onemocn\u011bn\u00ed je p\u0159\u00edtomnost biochemick\u00fdch nebo enzymatick\u00fdch odchylek v organismu, v jejich\u017e d\u016fsledku doch\u00e1z\u00ed k naru\u0161en\u00ed p\u0159em\u011bny l\u00e1tek uvnit\u0159 t\u011bla.<\/p>\n – Pro\u010d se tato onemocn\u011bn\u00ed objevuj\u00ed u d\u011bt\u00ed rodi\u010d\u016f, kte\u0159\u00ed nemaj\u00ed \u017e\u00e1dn\u00fd zdravotn\u00ed probl\u00e9m?<\/p>\n Podstatou je, \u017ee v dan\u00e9m p\u00e1ru jsou oba partne\u0159i bezp\u0159\u00edznakov\u00fdmi nosi\u010di choroby, v\u016fbec tedy nev\u011bd\u00ed, \u017ee maj\u00ed vlohu pro d\u011bdi\u010dnou metabolickou poruchu, jim samotn\u00fdm nic nen\u00ed a ani v jejich rodin\u00e1ch se takov\u00e9 onemocn\u011bn\u00ed nevyskytuje. Ka\u017ed\u00fd z n\u00e1s je nosi\u010dem pro n\u011bkolik des\u00edtek (!) onemocn\u011bn\u00ed autosom\u00e1ln\u011b recesivn\u00edho typu, ale nev\u00edme o tom do doby, ne\u017e potk\u00e1me partnera, kter\u00fd m\u00e1 vlohu pro nemoc v \u00fapln\u011b stejn\u00e9m genu jako my, a po\u010dneme s n\u00edm d\u00edt\u011b \u2013 v tomto p\u0159\u00edpad\u011b existuje 25procentn\u00ed \u0161ance pro ka\u017ed\u00e9 t\u011bhotenstv\u00ed, \u017ee d\u00edt\u011b bude trp\u011bt DMP. Jsou-li partne\u0159i pokrevn\u011b p\u0159\u00edbuzn\u00ed, riziko, \u017ee budou m\u00edt vlohu pro nemoc v tom sam\u00e9m genu, se samoz\u0159ejm\u011b v\u00fdznamn\u011b zvy\u0161uje.<\/p>\n – Pokud tedy nast\u00e1vaj\u00edc\u00ed rodi\u010de o \u017e\u00e1dn\u00e9 takov\u00e9 nemoci v r\u00e1mci rodiny nev\u011bd\u00ed, zachyt\u00ed p\u0159\u00edpadn\u00e9 onemocn\u011bn\u00ed novorozeneck\u00fd screening?<\/p>\n Novorozeneck\u00fd screening je preventivn\u00ed metoda zaveden\u00e1 do syst\u00e9mu ve\u0159ejn\u00e9ho zdravotnictv\u00ed, kter\u00e1 funguje ve v\u0161ech rozvinut\u00fdch zem\u00edch sv\u011bta. V obdob\u00ed 48\u201372 hodin po narozen\u00ed se odeb\u00edr\u00e1 krev z pati\u010dky d\u00edt\u011bte (takzvan\u00e1 such\u00e1 kapka). Laborato\u0159e z odebran\u00e9ho vzorku vy\u0161et\u0159uj\u00ed ur\u010dit\u00fd po\u010det nemoc\u00ed. V r\u016fzn\u00fdch zem\u00edch sv\u011bta se v\u0161ak po\u010det zkouman\u00fdch chorob li\u0161\u00ed. V\u00fdb\u011br jednotliv\u00fdch onemocn\u011bn\u00ed do screeningu nen\u00ed nic trivi\u00e1ln\u00edho, snahou je vy\u0161et\u0159it takov\u00e1, jejich\u017e v\u010dasnou diagnostikou m\u016f\u017eete podstatn\u00fdm zp\u016fsobem zv\u00fd\u0161it kvalitu \u017eivota pacienta, \u010di mu dokonce \u017eivot zachr\u00e1nit.<\/p>\n – D\u00edt\u011b roste, je v po\u0159\u00e1dku, ale pak za\u010dnou zdravotn\u00ed probl\u00e9my. Poznaj\u00ed pediat\u0159i \u010di praktici, \u017ee by mohlo j\u00edt o DMP?<\/p>\n Rozpoznat DMP b\u00fdv\u00e1 probl\u00e9m. Dnes je v katalogu vz\u00e1cn\u00fdch onemocn\u011bn\u00ed za\u0159azeno cca 7 tis\u00edc polo\u017eek. Je tedy t\u00e9m\u011b\u0159 nemo\u017en\u00e9, aby praktick\u00fd l\u00e9ka\u0159 m\u011bl v hlav\u011b p\u0159\u00edznaky v\u0161ech t\u011bchto chorob. T\u00edm, \u017ee jsou vz\u00e1cn\u00e9, se samoz\u0159ejm\u011b s mnoh\u00fdmi za celou svou praxi ani nesetk\u00e1\u2026 U mal\u00e9ho po\u010dtu DMP se vykytuj\u00ed velmi specifick\u00e9 p\u0159\u00edznaky (nap\u0159\u00edklad z\u00e1pach mo\u010di a potu po javorov\u00e9m sirupu \u010di po zpocen\u00fdch noh\u00e1ch u organick\u00fdch aciduri\u00ed nebo zvl\u00e1\u0161tn\u00ed v\u00fdraz obli\u010deje u mukopolysacharid\u00f3z), kter\u00e9 l\u00e9ka\u0159e mohou nav\u00e9st na stopu. U v\u011bt\u0161iny pacient\u016f s DMP jsou v\u0161ak p\u0159\u00edznaky nespecifick\u00e9 a praktick\u00fd l\u00e9ka\u0159 tak m\u00e1 velmi malou \u0161anci onemocn\u011bn\u00ed rozpoznat. Jednou z mo\u017en\u00fdch indici\u00ed m\u016f\u017ee b\u00fdt atypick\u00fd pr\u016fb\u011bh jinak b\u011b\u017en\u00e9 choroby. Ve v\u0161ech t\u011bchto p\u0159\u00edpadech by praktik nem\u011bl v\u00e1hat odeslat pacienta ke specialistovi. Ten u\u017e v\u011bt\u0161inou b\u00fdv\u00e1 v\u00edce informovan\u00fd a bude vy\u0161et\u0159en\u00ed krok za krokem navigovat spr\u00e1vn\u00fdm sm\u011brem. Nav\u00edc se DMP d\u00e1 prok\u00e1zat pouze specializovan\u00fdm a p\u0159esn\u011b c\u00edlen\u00fdm vy\u0161et\u0159en\u00edm krve nebo mo\u010di. Ne\u017e se p\u0159ijde na spr\u00e1vnou diagn\u00f3zu, \u010dasto ub\u011bhne n\u011bjak\u00fd \u010das. Pro rodi\u010de b\u00fdv\u00e1 samoz\u0159ejm\u011b velice frustruj\u00edc\u00ed, pokud je d\u00edt\u011b nemocn\u00e9 a nikdo ne\u0159ekne, co mu p\u0159esn\u011b je, vy\u0161et\u0159en\u00ed st\u0159\u00edd\u00e1 vy\u0161et\u0159en\u00ed\u2026 Ale v \u0159ad\u011b p\u0159\u00edpad\u016f prost\u011b nen\u00ed v sil\u00e1ch l\u00e9ka\u0159e ihned rozpoznat, o jak\u00e9 onemocn\u011bn\u00ed se jedn\u00e1.<\/p>\n – Pro\u010d se na n\u011bkter\u00e9 d\u011bdi\u010dn\u00e9 metabolick\u00e9 poruchy p\u0159ijde a\u017e v dosp\u011blosti?<\/p>\n \u0158ekl bych, \u017ee z\u00e1le\u017e\u00ed na typu mutace v genu, existuj\u00ed toti\u017e lehk\u00e9 a t\u011b\u017ek\u00e9 formy t\u00e9 sam\u00e9 nemoci. N\u011bkdy se d\u011bdi\u010dn\u00e1 vloha pro ni projev\u00ed dokonce velice z\u00e1hy, n\u011bkolik dn\u00ed po narozen\u00ed. Naproti tomu jin\u00e9 vlohy jsou tak m\u00edrn\u00e9, \u017ee se po dlouh\u00e1 l\u00e9ta \u010di des\u00edtky let nic „ned\u011bje“, p\u0159\u00edznaky se objev\u00ed a\u017e po dosa\u017een\u00ed n\u011bjak\u00e9ho prahov\u00e9ho momentu (pokud je l\u00e1tka m\u00e1lo toxick\u00e1, m\u016f\u017ee trvat opravdu dlouho, ne\u017e dojde k po\u0161kozen\u00ed zdrav\u00ed). Nicm\u00e9n\u011b je t\u0159eba zd\u016fraznit, \u017ee d\u011bdi\u010dn\u00fdch metabolick\u00fdch onemocn\u011bn\u00ed se zbyte\u010dn\u011b ob\u00e1vaj\u00ed lid\u00e9 s obezitou \u010di naopak nedostate\u010dnou hmotnost\u00ed \u2013 u nich p\u0159\u00ed\u010diny t\u011bchto stav\u016f spo\u010d\u00edvaj\u00ed jinde ne\u017e v oblasti DMP.<\/p>\n – Mohou se pacienti vyl\u00e9\u010dit?<\/p>\n Odhadujeme, \u017ee ze zn\u00e1m\u00fdch asi 800 DMP m\u016f\u017eeme n\u011bjak\u00fdm zp\u016fsobem l\u00e9\u010debn\u011b ovlivnit asi stovku, p\u0159i\u010dem\u017e m\u00edra \u00fasp\u011b\u0161nosti l\u00e9\u010dby je r\u016fzn\u00e1. U n\u011bkter\u00fdch onemocn\u011bn\u00ed lze zpomalit pr\u016fb\u011bh, u jin\u00fdch m\u016f\u017eeme pacientovi pomoci vylep\u0161it zdravotn\u00ed stav. Obecn\u011b jsou l\u00e9pe l\u00e9\u010diteln\u00e1 onemocn\u011bn\u00ed mal\u00fdch molekul, nicm\u00e9n\u011b v\u017edy je z\u00e1sadn\u00ed v\u010dasn\u00e1 diagnostika a rychl\u00e9 zah\u00e1jen\u00ed l\u00e9\u010dby. Pomoci v\u0161ak bohu\u017eel nem\u016f\u017eeme u onemocn\u011bn\u00ed, kter\u00e1 prob\u00edhaj\u00ed dlouhodob\u011b, nevratn\u011b po\u0161kozuj\u00ed mozek a ji\u017e do\u0161lo k \u00fabytku intelektov\u00fdch funkc\u00ed. V\u010dasn\u00e1 diagnostika vybran\u00fdch DMP se da\u0159\u00ed p\u0159edev\u0161\u00edm d\u00edky novorozeneck\u00e9mu screeningu. V rodin\u00e1ch, kde se ji\u017e DMP vyskytuje, je velk\u00fdm p\u0159\u00ednosem tak\u00e9 mo\u017enost prenat\u00e1ln\u00ed diagnostiky. D\u011bdi\u010dn\u00e1 metabolick\u00e1 onemocn\u011bn\u00ed b\u00fdvaj\u00ed chronick\u00e1, progresivn\u00ed a mnohdy \u017eivot ohro\u017euj\u00edc\u00ed, s atakami bezv\u011bdom\u00ed, to je t\u0159eba m\u00edt na pam\u011bti.<\/p>\n – Mohlo by se zd\u00e1t, \u017ee nemocn\u00fdch DMP pomalu, ale jist\u011b p\u0159ib\u00fdv\u00e1\u2026<\/p>\n Z genetick\u00e9ho pohledu mus\u00edme \u0159\u00edci, \u017ee celkov\u00fd po\u010det nemocn\u00fdch se velmi pravd\u011bpodobn\u011b nezvy\u0161uje, by\u0165 to tak opticky vypad\u00e1 d\u00edky \u010d\u00edm d\u00e1l dokonalej\u0161\u00ed diagnostice a tak\u00e9 d\u00edky tomu, \u017ee l\u00e9ka\u0159i na tato onemocn\u011bn\u00ed \u010d\u00edm d\u00e1l v\u00edce, a hlavn\u011b v\u010das pom\u00fd\u0161lej\u00ed, co\u017e je v\u017edy z\u00e1kladem \u00fasp\u011b\u0161n\u00e9 l\u00e9\u010dby a zlep\u0161en\u00ed kvality \u017eivota pacienta.<\/p>\n Onemocn\u011bn\u00ed mal\u00fdch molekul<\/strong><\/p>\n Mal\u00e9 molekuly se v t\u011ble pou\u017e\u00edvaj\u00ed jako stavebn\u00ed kameny nebo jako zdroj energie. P\u0159i nedostate\u010dn\u00e9 tvorb\u011b n\u011bkter\u00fdch mal\u00fdch molekul nen\u00ed pacient schopen zv\u00fd\u0161en\u00e9 svalov\u00e9 n\u00e1mahy \u010di hladov\u011bn\u00ed. U jin\u00fdch pacient\u016f naopak doch\u00e1z\u00ed k hromad\u011bn\u00ed toxick\u00fdch l\u00e1tek. Kup\u0159\u00edkladu v\u0161ichni zn\u00e1me \u010dpavek \u2013 ost\u0159e zap\u00e1chaj\u00edc\u00ed plyn. V t\u011ble ze \u010dpavku tvo\u0159\u00edme mo\u010dovinu a tu vylu\u010dujeme mo\u010d\u00ed z t\u011bla ven. Pokud v\u0161ak \u010dlov\u011bk neum\u00ed zpracovat \u010dpavek na mo\u010dovinu, za\u010dne se mu v t\u011ble hromadit. Toto onemocn\u011bn\u00ed m\u016f\u017ee za\u010d\u00edt n\u011bkolik dn\u00ed po porodu, kdy nahromad\u011bn\u00ed \u010dpavku zp\u016fsob\u00ed u novorozence t\u011b\u017ek\u00fd otok mozku, a pokud onemocn\u011bn\u00ed nen\u00ed v\u010das rozpoznan\u00e9, m\u016f\u017ee v\u00e9st a\u017e ke smrti novorozence.<\/p>\n onemocn\u011bn\u00ed komplexn\u00edch molekul V \u010cR se v r\u00e1mci novorozeneck\u00e9ho screeningu vy\u0161et\u0159uje fenylketonurie od roku 1980, od podzimu 2009 se pak p\u0159idalo testov\u00e1n\u00ed dal\u0161\u00edch dev\u00edti DMP. Od r. 2016 se vy\u0161et\u0159uje 18 onemocn\u011bn\u00ed. Pravd\u011bpodobnost onemocn\u011bn\u00ed je velmi mal\u00e1 (proto DMP spadaj\u00ed pod vz\u00e1cn\u00e1 onemocn\u011bn\u00ed), stane se tak u jednoho d\u00edt\u011bte z p\u0159ibli\u017en\u011b 4 tis\u00edc narozen\u00fdch. \u010c\u00edm d\u0159\u00edve se v\u0161ak onemocn\u011bn\u00ed odhal\u00ed, t\u00edm v\u00edce je mo\u017en\u00e9 novorozenci pomoci, zlep\u0161it jeho \u017eivot a p\u0159edej\u00edt z\u00e1va\u017en\u00fdm komplikac\u00edm.<\/p>\n T\u0159i skupiny testovan\u00fdch DMP:<\/p>\n 1. Fenylketonurie<\/strong>: V p\u0159\u00edpad\u011b, \u017ee nen\u00ed l\u00e9\u010dena, se projevuje opo\u017ed\u011bn\u00fdm du\u0161evn\u00edm v\u00fdvojem ji\u017e v kojeneck\u00e9m a\u017e d\u011btsk\u00e9m v\u011bku, podle toho, jak t\u011b\u017ek\u00fd je enzymov\u00fd deficit (mimo jin\u00e9 se objevuje epilepsie, ko\u017en\u00ed p\u0159\u00edznaky, sv\u011btlej\u0161\u00ed pigmentace\u2026). Pokud se onemocn\u011bn\u00ed zachyt\u00ed v\u010das, pacienti dost\u00e1vaj\u00ed n\u00edzkob\u00edlkovinnou dietu a prepar\u00e1t, ve kter\u00e9m jsou aminokyseliny bez fenylalaninu. P\u0159i takov\u00e9 l\u00e9\u010db\u011b maj\u00ed v z\u00e1sad\u011b norm\u00e1ln\u00ed kvalitu \u017eivota. Nebezpe\u010d\u00ed onemocn\u011bn\u00ed je v\u0161ak v tom, \u017ee prob\u00edh\u00e1 pl\u00ed\u017eiv\u011b, a pokud se zjist\u00ed p\u0159\u00edli\u0161 pozd\u011b, nen\u00ed v mo\u017enostech sou\u010dasn\u00e9 medic\u00edny pomoci u\u017e nastal\u00e9 po\u0161kozen\u00ed zvr\u00e1tit, lze zastavit jen dal\u0161\u00ed zhor\u0161en\u00ed stavu.<\/p>\n 2. acidurie<\/strong> (nap\u0159. nemoc javorov\u00e9ho sirupu nebo isovalerov\u00e1 acidurie): Klasicky propukaj\u00ed na konci prvn\u00edho t\u00fddne \u017eivota novorozence, kdy se p\u0159est\u00e1v\u00e1 tolik hl\u00e1sit o j\u00eddlo, nast\u00e1v\u00e1 v\u011bt\u0161\u00ed v\u00e1hov\u00fd sp\u00e1d, postupn\u011b se objevuje porucha v\u011bdom\u00ed, kter\u00e1 kon\u010d\u00ed bezv\u011bdom\u00edm. V t\u011ble se toti\u017e hromad\u00ed abnorm\u00e1ln\u011b zap\u00e1chaj\u00edc\u00ed kysel\u00e9 l\u00e1tky, je\u017e jsou vysoce toxick\u00e9 pro mozek.<\/p>\n 3. Poruchy beta-oxidace mastn\u00fdch kyselin<\/strong> (nap\u0159. deficit MCAD): Pokud zdrav\u00fd \u010dlov\u011bk hladov\u00ed d\u00e9le ne\u017e p\u016fl dne, za\u010d\u00edn\u00e1 vyu\u017e\u00edvat mastn\u00e9 kyseliny ze sv\u00fdch tukov\u00fdch z\u00e1sob, vytv\u00e1\u0159\u00ed si z nich tzv. ketol\u00e1tky, tuky p\u0159ev\u00e1d\u00ed na gluk\u00f3zu, kterou pot\u0159ebuje k pr\u00e1ci mozku, sval\u016f apod. Nemocn\u00ed v\u0161ak nejsou schopn\u00ed ketol\u00e1tky produkovat, m\u011bnit tuky v gluk\u00f3zu, velmi rychle se jim vy\u010derpaj\u00ed z\u00e1soby gluk\u00f3zy a pak mohou upadnout do bezv\u011bdom\u00ed z hypoglykemie. \u010clov\u011bk s takovou poruchou by se proto m\u011bl v ka\u017ed\u00e9m p\u0159\u00edpad\u011b vyhnout p\u0159\u00edsn\u00e9mu p\u016fstu, kdy nebude p\u0159ij\u00edmat v\u016fbec \u017e\u00e1dnou potravu! V t\u00e9to skupin\u011b je dal\u0161\u00edch 6 nemoc\u00ed, kdy se v t\u011ble hromad\u00ed vysoce toxick\u00e9 l\u00e1tky, kter\u00e9 mohou postihnout nap\u0159. srde\u010dn\u00ed sval a po\u0161kodit jej.<\/p>\n Od r. 2016 se vy\u0161et\u0159uje t\u011bchto 18 onemocn\u011bn\u00ed:<\/p>\n Pro d\u011bdi\u010dn\u00e9 metabolick\u00e9 poruchy bohu\u017eel neexistuje jednoduch\u00e9 krit\u00e9rium, podle n\u011bho\u017e by bylo snadn\u00e9 je odhalit. Pot\u00ed\u017e je v tom, \u017ee mohou postihovat kter\u00fdkoli org\u00e1n, ve […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":15234,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-15503","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\/15503","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=15503"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/15503\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/15234"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=15503"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=15503"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=15503"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}sleduj\u00ed se onemocn\u011bn\u00ed<\/strong><\/h3>\n
\n<\/strong>V\u0161ichni zn\u00e1me kosmetickou proceduru, kdy se do pleti injek\u010dn\u011b vpravuje kyselina hyaluronov\u00e1, co\u017e vede k vyhlazen\u00ed vr\u00e1sek. Kyselina hyaluronov\u00e1 je typem komplexn\u00ed molekuly \u2013 je to l\u00e1tka, kter\u00e1 umo\u017e\u0148uje na sebe v\u00e1zat vodu a t\u00edm udr\u017euje pru\u017enost tk\u00e1n\u011b. Tuto kyselinu si v t\u011ble sami produkujeme a zase ji mus\u00edme odbour\u00e1vat. Velmi p\u0159\u00edbuzn\u00e9 l\u00e1tky jsou tzv. mukopolysacharidy. N\u011bkte\u0159\u00ed pacienti maj\u00ed probl\u00e9m s produkc\u00ed t\u011bchto komplexn\u00edch molekul, u jin\u00fdch se naopak hromad\u00ed, proto\u017ee pacient nen\u00ed schopen je odbour\u00e1vat. Pokud se tedy nap\u0159\u00edklad v pojivov\u00e9 tk\u00e1ni nahromad\u00ed p\u0159\u00edli\u0161 mnoho mukopolysacharid\u016f, pacientovi se zv\u011bt\u0161uj\u00ed vnit\u0159n\u00ed org\u00e1ny, doch\u00e1z\u00ed k posti\u017een\u00ed mozku a objevuje se n\u00e1padn\u00fd tvar obli\u010deje se zhrub\u011bl\u00fdmi rysy.<\/p>\n\n
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