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master's thesis
McCune - Albrightov sindrom
Zagreb: University of Zagreb, School of Medicine, 2021. urn:nbn:hr:105:551810
Bulić, Dora
University of Zagreb
School of Medicine
Department of Pediatrics

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

Cite this document

Bulić, D. (2021). McCune - Albrightov sindrom (Master's thesis). Zagreb: University of Zagreb, School of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:551810

Bulić, Dora. "McCune - Albrightov sindrom." Master's thesis, University of Zagreb, School of Medicine, 2021. https://urn.nsk.hr/urn:nbn:hr:105:551810

Bulić, Dora. "McCune - Albrightov sindrom." Master's thesis, University of Zagreb, School of Medicine, 2021. https://urn.nsk.hr/urn:nbn:hr:105:551810

Bulić, D. (2021). 'McCune - Albrightov sindrom', Master's thesis, University of Zagreb, School of Medicine, accessed 14 January 2025, https://urn.nsk.hr/urn:nbn:hr:105:551810

Bulić D. McCune - Albrightov sindrom [Master's thesis]. Zagreb: University of Zagreb, School of Medicine; 2021 [cited 2025 January 14] Available at: https://urn.nsk.hr/urn:nbn:hr:105:551810

D. Bulić, "McCune - Albrightov sindrom", Master's thesis, University of Zagreb, School of Medicine, Zagreb, 2021. Available at: https://urn.nsk.hr/urn:nbn:hr:105:551810

Metadata
TitleMcCune - Albrightov sindrom
Title (english)McCune - Albright syndrome
AuthorDora Bulić
MentorKatja Dumić Kubat (mentor)
Committee memberNevena Krnić (predsjednik povjerenstva)
Committee memberMarija Jelušić (član povjerenstva)
Committee memberKatja Dumić Kubat (član povjerenstva)
GranterUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Zagreb
Defense date and country2021-07-16, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract
McCune-Albrightov sindrom (MAS) je rijedak genetski poremećaj kojeg, u većini slučajeva, odlikuje somatska missense mutacija heterotrimernog G proteina kodiranog na GNAS lokusu. Navedena mutacija u 95% slučajeva dovodi do Arg201Cys ili Arg201His supstitucije, koja pak uzrokuje abnormalnu aktivnost Gαs transkripcijskog faktora i povećanu produkciju cAMP-a s posljedičnom hiperaktivacijom brojnih tkiva i organa. Sindrom se nasljeđuje mozaično, a do sada nije opisana vertikalna transmisija. U kliničkoj slici opisuje se klasična trijada simptoma, uključujući cafe-au-lait hiperpigmentacije kože, fibroznu displaziju kostiju i periferni preuranjeni pubertet. Bolest može pogađati i druge organe poput hipofize, štitnjače, nadbubrežne žlijezde, probavne organe i dr. S obzirom na mozaičan način nasljeđivanja, mutirane stanice raspoređuju se po organizmu u različitim omjerima, što konačno dovodi do varijabilne težine kliničke slike u svakog oboljelog- od asimptomatskih slučajeva do slučajeva nespojivih sa životom. Dijagnoza se postavlja klinički, a popis diferencijalnih dijagnoza je širok. Bolesnike se najčešće dijagnosticira u ranoj dječjoj dobi, češće u ženskog spola. Ne postoji mogućnost liječenja uzročnog stanja, već se provodi simptomatsko liječenje s farmakološkim i kirurškim pristupom. Praćenje i terapijski pristup u ovih bolesnika iziskuje multidisciplinarni tim liječnika raznih specijalnosti.
Abstract (english)
McCune-Albright syndrome (MAS) is a rare genetic disorder most commonly caused by a somatic missense mutation of a heterotrimeric G protein encoded at the GNAS locus. This mutation leads to Arg201Cys or Arg201His substitution in 95% of the cases, which causes abnormal Gαs transcription factor activity and increased cAMP production with consequent hyperactivation of numerous tissues and organs. The clinical expression describes a classic triad of symptoms, including cafe-au-lait hyperpigmentation of the skin, fibrous bone dysplasia, and peripheral premature puberty. The disease can affect other organs such as the pituitary gland, thyroid gland, adrenals, pancreas, etc. Due to the mosaic nature of the condition, mutated cells distribute throughout the body in different proportions, which leads to variable severity of the clinical presentations, from asymptomatic to severe. The diagnosis is made clinically, and the list of differential diagnoses is extensive. Patients are most often diagnosed in early childhood, more often in females. There is no definitive cure, but symptomatic treatment is performed with a pharmacological and surgical approach. Monitoring and therapeutic approach in these patients requires a multidisciplinary team of physicians of various subspecialties.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:105:551810
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2022-01-28 11:31:42