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Detsk endokrinologie Onemocnen nadledvinek a t tn l zy

Onemocnen

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Detsk endokrinologie Onemocnen nadledvinek a t tn l zy

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    1. Detsk endokrinologie Onemocnen nadledvinek a ttn lzy E. Parzkov Detsk klinika FN HK Katedra pediatrie LF UK v HK

    2. Onemocnen kury nadledvinek Syntza steroidu: zevn zona glomerulosa (produkce mineralokortikoidu balance Na a K) stredn zona fasciculata vnitrn zona reticularis - produkce kortizolu a pohlavnch steroidu Osa hypothalamus ? hypofza ? nadledvinky, negativn zpetn vazba (CRH a ACTH) ACTH ? syntza a uvolnovn kortizolu a androgenu Exogenn kortizol tak suprimuje produkci ACTH Renin-angiotensin-aldosteronov systm (stejne jako kalium) Prekurzor steroidu cholesterol

    3. Onemocnen kury nadledvinek Voln steroidy mohou prejt placentou Prirozen sekrecn diurnln rytmus ACTH a glukokortikoidu, kortizol nejni o pulnoci, maximum kolem 6 hodiny rno Adrenln insuficience Klinick manifestace vsledkem neadekvtn sekrece glukokortikoidu, mineralkortikoidu nebo obojho Nadprodukce androgenu vzvislosti na mste blokdy ? zmeny na zevnm genitlu (pseudohermafroditizmus)

    4. Onemocnen kury nadledvinek Deficit kortizolu Hypoglykmie, nezvldnut stresu, vazomotorick kolaps, hyperpigmentace, apnoick pauzy, hypoglykemick krece, svalov slabost, navnost Deficit aldosteronu Zvracen, hyponatremie, ztrty Na moc, hyperkalmie, acidza, neprospvn, deplece objemu cirkulujc tekutiny, hypotenze, dehydratace, ok, prujem, svalov slabost Exces androgenu a obojetn genitl pseudohermafroditizmus 46, XX, ovaria, virilizace zevnho genitlu Enzymatick defekty deficit 21-hydroxylzy deficit 11-beta hydroxylzy deficit 17-hydroxylzy

    5. Kongenitln hyperplzie nadledvinek (Congenital adrenal hyperplasia = CAH) (Adrenogenitln syndrom) AR dedicnost, 1:14 500 (Evropa 1:5 500 17 000) 95% - deficit 21-hydroxylzy 4% - deficit 11?-hydroxylzy 1% - dal enzymatick defekty Soucst novorozeneckho screeningu (such kapka krve z paty) nrodn studie

    6. DEFICIT 21-HYDROXYLZY (6p) Kongenitln hyperplzie nadledvinek = virilizujc steroidn enzymopatie, prevaha androgenu 3/4 pacientu: ? tvorba kortizolu i aldosteronu ? ohroen na ivote solnou poruchou 1/4 pacientu: virilizujc forma CAH bez soln poruchy Praderova klasifikace virilizace genitlu u devcat sCAH do 5 stupnu ? kortizol ? stimulace ACTH ? nadprodukce androgenu + hyperplzie kury nadledvin

    7. DEFICIT 21-HYDROXYLZY (6p) Kongenitln hyperplzie nadledvinek 1. Klasick forma 2. Neklasick forma: vnovorozeneckm veku nen virilizace genitlu, pozdeji nadprodukce androgenu ? pubertas praecox, hirzutizmus, akn

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