Integrative Algorithms in the Diagnostics of Lysosomal Storage Diseases / INTEGRATIVNI ALGORITMI U DIJAGNOSTICI POREMEĆAJA U SKLADIŠTENJU LIZOZOMA

Abstract

SummaryLysosomal storage disorders (LSDs) are a clinically heterogeneous group of more than 50 disorders which still represent a challenge in modern medicine. The efficacy of many current and proposed therapies relies heavily upon early detection and treatment prior to the onset of irreversible pathology. Although there are multiple paths and algorithms to a final diagnosis, the diagnostic strategy for LSDs still mostly relies on initial clinical suspicion followed by adequate specialist and laboratory management -a selective screening approach. Despite the fact that the technology of tandem mass spectrometry enables newborn screening, such screening is generally acceptable only for a population at high risk for a certain LSD. As diagnostic testing for these disorders may be difficult, communication between the clinician who has established clinical suspicion and laboratory personnel will help complete this process.Keywords: lysosomal storage disorders, diagnostic strategy, a selective screening approach Kratak sadr`ajPoreme}aji u skladi{tenju lizozoma u klini~kom smislu ~ine heterogenu grupu vi{e od 50 poreme}aja koji jo{ pred stavljaju izazov za modernu medicinu. Efikasnost mnogih postoje}ih i predlo`enih terapija u velikoj meri zavisi od rane detekcije i primene terapije pre nego {to do|e do razvoja neizle ~ive patologije. Iako postoje brojni putevi i algoritmi za kona~nu dijagnozu, dijagnosti~ka strategija za poreme}aje u skladi{tenju lizozoma i dalje se uglavnom oslanja na po~etnu klini~ku sumnju posle koje sledi adekvatan specijalisti~ki tretman i laboratorijski rad -pristup selektivnog skrininga. Uprkos ~injenici da tehnologija tandem masene spektrometrije omogu}ava skrining novoro|en~adi, takav skrining je generalno prihvatljiv samo za populacije sa visokim rizikom za odre |eni poreme}aj u skladi{tenju lizozoma. Kako dijagnosti~ko testiranje za ove poreme}aje mo`e biti te{ko, komunikacija izme|u klini~ara koji je ustanovio klini~ku sumnju i osoblja u laboratoriji doprine}e uspe{nom okon~anju ovog procesa.