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Fahrov sindrom - neurološka manifestacija endokrinološkog oboljenja
Klinički centar Srbije, Klinika za endokrinologiju dijabetes i bolesti metabolizma, Beograd

e-adresadrmariamiletic@gmail.com
Ključne reči: pseudohipoparatiroidizam; ektopične kalcifikacije; hipokalcemija
Sažetak
Fahrov sindrom opisan je kao kalcifikacija bazalnih ganglija i predstavlja retko nasleđeno ili sporadično neurološko oboljenje sa prevalencijom 1:1000000 (1). Prvi put opisano 1930. godine u radovima dr Karl Theodor Fahr-a karakteriše se depozicijom kalcijuma u oblastima mozga za kontrolu pokreta: bazalnim ganglijama, talamusu, cerebralnom korteksu, cerebelumu, nucleusu dentatusu, subkortikalnoj beloj moždanoj masi i hipokampusu (2). Dijagnostički kriterijumi su revidirani i modifikovani od strane Moskowitz 1971, Ellie et al. 1989 i Manyam 2005. godine (2, 3, 4) i podrazumevaju: bilateralne kalcifikacije bazalnih ganglija potvrđene neuroradiološkom vizuelizacijom, progresivnu neurološku disfunkciju i neuropsihijatrijske manifestacije, odsustvo biohemijskih i somatskih entiteta mitohondrijalnih bolesti, odsustvo infektivne, traumatske ili toksične etiologije i autozomno dominantno nasleđivanje (2, 3, 4). Etiološki, endokrine bolesti, a posebno disfunkcije paratiroidnih žlezda, tesno su vezane sa Fahrovim sindromom, uključuju idiopatski hipoparatiroidizam, sekundarni hipoparatiroidizam, pseudohipoparatiroidizam, pseudo-pseudohipoparatiroidizam i hiperparatiroidizam. Pseudo i pseudo-pseudohipoparatiroidizam su definisani fenotipskim spektrom izazvanim mutacijom u RNA. Ispoljavaju se u proseku u uzrastu od 8. do 10. godine, kliničkim manifestacijama veoma sličnim hipoparatiroidizmu osim nešto izraženije intelektualne deklinacije. Termin pseudohipoparatiroidizam (PHP) za podtipove PHP tip IA i PHP tip 1C obuhvata oboljenja koja dele biohemijske karakteristike hipoparatiroidizma (hipokalcemija i hiperfosfatemija), a koje su posledice rezistencije ciljnih tkiva na dejstvo paratiroidnog hormona. U nekim slučajevima detektuje se rezistencija na TSH, gonadotropine, GHRH i kalcitonin koji poseduju receptore vezane za subjedinicu Gs alfa. Pacijenti sa PHP tipa 1A i tipa 1C pokazuju raznoliku fenotipsku ekspresiju objedinjenu terminom Albright-ova hereditarna osteodistrofija (AHO), koja uključuje prevremeno zatvaranje zona rasta kostiju i kratke kosti, nizak rast, ektopične kalcifikacije. Detaljnije, na osnovu diseminacije ektopičnih kalcifikacija pacijenti su klasifikovani u tri kategorije: pseudohipoparatiroidizam, progresivna koštana heteroplazija i osteoma cutis. Predstavljen je pacijent kod koga je u ranom uzrastu dijagnostikovan pseudohipoparatiroidizam na osnovu fenopskih karakteristika AHO i biohemijskog nalaza hipokalcemije. Uvedena je supstituciona terapija vitaminom D i kalcijumom, da bi nakon izraženih promena u ponašanju, osećaja da ga neko prati i ekstremne uznemirenosti bio hospitalizovan u Klinici za neurologiju, a zatim i u Klinici za endokrinologiju Kliničkog centra Srbije. Neurofunkcionalna ispitivanja su pokazala progresivno propadanje intelektualnih funkcija, neuroradiološki su detektovane zone kalcifikacije bazalnih ganglija i frontalno subkortikalne bele mase, kao i hipotireoza kao posledica rezistencije na TSH. Detektovane su visoke koncentracije kalcitonina, takođe kao posledica rezistencije ciljnih tkiva na kalcitonin.
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O članku

jezik rada: srpski
vrsta rada: neklasifikovan
DOI: 10.5937/medgla2077057M
objavljen u SCIndeksu: 26.09.2020.
Creative Commons License 4.0

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