Defekty neurální trubice

17.8.2013

defekty-neuralni-trubice.jpg - kopie
defekty-neuralni-trubice.jpg - kopie
Defekty neurální trubice jsou vrozené vady, kvůli kterým se novorozenci narodí bez plně vyvinutého mozku, deformovanou míchou nebo páteří. Jak takovou vadu léčit, záleží na druhu a závažnosti. A jak se defektům neurální trubice bránit? Kyselinou listovou, jejíž denní přísun by se v plodném věku měl zdvojnásobit.

Defekty neurální trubice

Defekt neurální trubice je vrozená vada projevující se deformací mozku, míchy nebo páteře. Defekty neurální trubice zahrnují například anencefalii, kdy se dítě narodí s neúplně vyvinutým nebo chybějícím mozkem, nebo spina bifida, kdy část míchy a meningů (tenké blány obklopující mozek a míchu) jsou viditelné pod tenkou vrstvou kůže. Defekty neurální trubice jsou spojovány s deficitem kyseliny listové u matky před těhotenstvím a v jeho průběhu; s nadměrnou tělesnou teplotou matky během těhotenství způsobenou například vysokou horečkou nebo s výskytem této poruchy v rodinné anamnéze.

Příznaky defektu neurální trubice

Novorozenci, kteří se narodí bez plně vyvinutého mozku, mají deformovaný obličej a lebku a nemohou fungovat. Výhřez míchy a meningů způsobuje poškození nervů v místě defektu a pod ním. Obvykle je postižena chůze a ovládání močového měchýře a vyprazdňování střev. Dítě vykazuje chabé reflexy a nereaguje na dotyk nebo na bolest.

Diagnóza defektu neurální trubice

Zvýšená hladina bílkoviny zvané alfa-fetoprotein v matčině krvi nebo v plodové vodě (tekutina obklopující plod v děloze) by měla upozornit lékaře na možnost defektu neurální trubice. Ultrazvukovým vyšetřením ploduje obvykle možné určit druh defektu a jeho závažnost. Po porodu může lékař zjistit defekt fyzickým vyšetřením.

Léčba defektu neurální trubice

Léčba defektu neurální trubice záleží na druhu a závažnosti defektu. Pokud chcete mít další dítě, měli byste vyhledat genetickou poradnu, abyste věděli, s jakým rizikem máte počítat a jak defektu v příštích těhotenstvích zabránit.

Kyselina listová jako prevence vrozených vad

Ženy, které plánují těhotenství, by měly zkonzumovat denně 400 mikrogramů (0,4 miligramu) kyseliny listové (známé také jako folát). Kyselina listová brání vrozeným defektům neurální trubice, jako jsou například anencefalie nebo rozštěp páteře, které se mohou vyvinout během prvních měsíců těhotenství - v tak raném stadiu, že žena ještě nemusí vědět, že je těhotná. Kyselina listová se nachází ve špenátu a v další zelenině s tmavě zelenými listy, v pomerančové šťávě, v ovoci, v sušených fazolích a hrášku a v játrech. Abyste skutečně pokryli denní potřebu kyseliny listové, je možné ji také užívat ve formě potravinového doplňku. Většina lékařů souhlasí s názorem, že všechny ženy v plodném věku by měly zdvojnásobit denní přísun kyseliny listové - i když těhotenství neplánují - neboť se tak omezí nebezpečí vrozených vad v případě neplánovaného těhotenství.

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12. března 2016 4:12

Veronika Packanová: Dobrý den.. dnes mi přišli výsledky z genetického vyšetření, kde je naspáno, že mám mutaci genu MTHFR v heterozygotním stavu. Mohli byste mi prosím trochu přiblížit, co přesně to znamená a jaká jsou rizika? Předem moc děkuji.

25. července 2014 12:06

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