KONGENITALNA ADRENALNA HIPERPLAZIJA

Jelena Miolski; Maja Ješić; Vera Zdravković

doi:10.5937/mp72-31347

Jelena Miolski Univerzitet u Beogradu, Medicinski fakultet, Beograd, Srbija - student doktorskih studija
Maja Ješić docent, katedra pedijatrije, Univerzitetska dečja klinika, Beograd
Vera Zdravković docent, katedra pedijatrije, Univerzitetska dečja klinika, Beograd

DOI: https://doi.org/10.5937/mp72-31347

Ključne reči: kongenitalna adrenalana hiperplazija, deca.

Sažetak

Kongenitalna nadbubrežna hiperplazija je oboljenje u kojem mutacija gena, koja se nasleđuje autozomno recesivno, uzrokuje poremećaj u sintezi enzima koji iz holesterola nadbubrežnih žlezda stvaranju glukokortikoide, mineralokortikoide ili polne steroide. Icidencija klasičnog oblika bolesti je od 1:14000 do 1:18000 rođenih. Bolest u većini slučajeva nastaje usled mutacija CYP21A2 gena koji učestvuje u sintezi enzima 21 alfa hidroksilaza. Nedostatakom enzima, blokirana je sinteza kortizola s nagomilavanjem stvaranja polnih hormona.

Klasični oblik bolesti ili jednostavan virilizujući oblik u kome pacijenti gube so, dijagnostikuje se u odojačkom periodu. U neklasičnom ili blagom obliku bolesti, kasnog početka, pacijenti mogu biti asimptomatski ili se mogu javiti sa blažim oblikom virilizacije postnatalno. Dijagnoza se postavlja na osnovu nivoa 17 hidroksiprogesterona, da bi se utvrdio nedostatak enzima 21 alfa hidroksilaze. Komplikacije bolesti su nadburežna kriza, hiperglikemija, gojaznost, povišene vrednosti krvnog pritiska, infertilitet, prevremeni ulazak u pubertet.

Prenatalna terapija je označena kao eksperimentalno lečenje, dok osnovu zbrinjavanja čini nadoknada hidrokortizona. U teškim oblicima bolesti, pacijenti nisu u stanju da izluče dovoljno kortizola kao odgovor na stres kod gastroenteritisa, hirurških zahvata, traume ili usled febrilnosti, zbog čega su im neophodne veće doze hidrokortizona. U određenim slučajevima nediferentovanih genitalija neophodno je i hirurško lečenje.

Multidisciplinarni tim stručnjaka je neophodan u adekvatnom nadzoru same bolesti u detinjstvu i u odraslom zrelom dobu.

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