Uspešan terapijski odgovor pacijenta sa teškim neurološkim manifestacijama akutne intermitentne porfirije izazvane lekovima – prikaz slučaja
Sažetak
Uvod: Akutna intermitentna porfirija je redak metabolički poremećaj u čijoj je osnovi poremećaj biosinteze hema i može izazvati teške neurološke simptome koji uključuju centralni, autonomni i periferni nervni sistem. Pravovremena dijagnoza bolesti često predstavlja veliki izazov zbog raznovrsnih simptoma koji mogu imitirati kliničku prezentaciju drugih bolesti.
Prikaz slučaja: Žena stara 23 godine sa bolovima u stomaku, konstipacijom, progresivnim razvojem kvadripareze i bulbarne paralize primljena je u jedinicu intenzivnog lečenja dve nedelje nakon stomatološke operacije. Prethodna upotreba preventivne antibiotske terapije (eritromicin) i bromokriptina (korišćen radi supresije laktacije) mogli su biti precipitirajući faktori za akutni atak bolesti. Dijagnoza je potvrđena detekcijom visokih nivoa porfobilinogena i delta-aminolevulinske kiseline u urinu. Pacijent je lečen konzervativno visokim unosom ugljenih hidrata i humanim heminom, sa dobrim odgovorom na lečenje. Dva meseca nakon terapije, pacijent je primljen na Odeljenje fizikalne medicine i rehabilitacije, kada je započet fizikalni tretman. Na kontrolnom pregledu nakon 3 meseca došlo je do značajnog poboljšanja u njenom neurološkom statusu.
Zaključak: Rana dijagnoza akutne intermitentne porfirije je značajna za prevenciju ozbiljnih posledica i pravovremeno ordiniranje terapije.
Reference
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