Atipični primer Vilsonove bolesti sa psihotičnim početkom, niskim bakrom u 24-satnom urinu i odsustvom Kajzer Flajšerovih prstenova

  • Dragan Krstić Clinic of Psychiatry, Military Medical Academy, Belgrade Serbia
  • Jadranka Antonijević Clinic of Psychiatry, Military Medical Academy, Belgrade Serbia
  • Željko Špirić Clinic of Psychiatry, Military Medical Academy, Belgrade Serbia; Faculty of Medicine of the Military Medical Academy, University of Defence, Belgrade, Serbia
DOI: https://doi.org/10.2298/3947
Ključne reči: hepatolenticular degeneration||, ||hepatolentikularna degeneracija, diagnosis||, ||dijagnoza, mental disorders||, ||mentalni poremećaji, copper||, ||bakar, molecular biology||, ||biologija, molekulska, genetic diseases, inborn||, ||nasledne bolesti, treatment outcome||, ||lečenje, ishod,

Sažetak


Uvod. Vilsonova bolest se karakteristično ispoljava kroz dva klinička oblika, neurološki i heparni, a ređe počinje isključivo sa psihijatrijskim simptomima. Prikazan je redak, atipični slučaj Vilsonove bolesti sa psihotičnim početkom. Prikaz bolesnika. Muškarac od 22 godine imao je u početku, tokom nekoliko godina, dominantne znakove i simptome psihijatrijskog poremećaja, a tek kasnije neurološke znakove i simptome. Neuroradiološkim analazima su detektovani depoziti metala u centralnom nervnom sistemu (CNS),  ali ne i u perifernim organima, a laboratorijskim analizama krvi isključeni su pantothenate-kinase associated neurodegeneration i aceruloplazminemija. U prilog dijagnoze Vilsonove bolesti bili su snižena koncentracija bakra i ceruloplazmina u serumu i depoziti metala u CNS-u, ali su bili odsutni drugi patognomonični znaci i simptomi: povišen bakar u urinu, Kajzer-Flajšerovi prstenovi u Descemetovoj membrani korneje i  depoziti bakra u jetri. Na terapiju penicilaminom došlo je do poboljšanja psihičkog i opšteg zdravstvenog stanja bolesnika. Dijagnoza Vilsonove bolesti definitivno je potvrđena molekularno genetskim analizama. Zaključak. Vilsonova bolest može dugo ostati neprepoznata, ukoliko je maskirana dominantnim ili isključivo psihijatrijskim simptomima. Ako nisu prisutni jasni klinički simptomi i znakovi i nedvosmisleni laboratorijski nalazi, neophodno je uraditi molekularno genetsku analizu radi konačne potvrde dijagnoze.

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Received

Objavljeno
2015/04/24
Broj časopisa
Vol. 71 Br. 12 (2014)
Rubrika
Prikaz bolesnika