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undergraduate thesis
HUNTINGTONOVA BOLEST
2019. urn:nbn:hr:184:283839
Šušnjar, Iva
University of Rijeka
Faculty of Health Studies
Department of Clinical Sciences 1

Cite this document

Šušnjar, I. (2019). HUNTINGTONOVA BOLEST (Undergraduate thesis). Rijeka: University of Rijeka, Faculty of Health Studies. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:283839

Šušnjar, Iva. "HUNTINGTONOVA BOLEST." Undergraduate thesis, University of Rijeka, Faculty of Health Studies, 2019. https://urn.nsk.hr/urn:nbn:hr:184:283839

Šušnjar, Iva. "HUNTINGTONOVA BOLEST." Undergraduate thesis, University of Rijeka, Faculty of Health Studies, 2019. https://urn.nsk.hr/urn:nbn:hr:184:283839

Šušnjar, I. (2019). 'HUNTINGTONOVA BOLEST', Undergraduate thesis, University of Rijeka, Faculty of Health Studies, accessed 10 November 2024, https://urn.nsk.hr/urn:nbn:hr:184:283839

Šušnjar I. HUNTINGTONOVA BOLEST [Undergraduate thesis]. Rijeka: University of Rijeka, Faculty of Health Studies; 2019 [cited 2024 November 10] Available at: https://urn.nsk.hr/urn:nbn:hr:184:283839

I. Šušnjar, "HUNTINGTONOVA BOLEST", Undergraduate thesis, University of Rijeka, Faculty of Health Studies, Rijeka, 2019. Available at: https://urn.nsk.hr/urn:nbn:hr:184:283839

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Metadata
TitleHUNTINGTONOVA BOLEST
Title (english)HUNTINGTON'S DISEASE
AuthorIva Šušnjar
MentorOlivio Perković (mentor)
MentorIva Sorta-Bilajac (komentor)
Committee memberToni Valković (predsjednik povjerenstva)
Committee memberMira Bučuk (član povjerenstva)
Committee memberOlivio Perković (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Health Studies
(Department of Clinical Sciences 1)
Rijeka
Defense date and country2019-09, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Abstract
Huntingtonova bolest predstavlja nasljednu (autosomno-dominantnu) progresivnu i neumitno fatalnu neurodegenerativnu bolest, koja dovodi do propadanja i smrti živčanih stanica u mozgu. Mutacija u genu huntingtin sastoji se od višestrukih ponavljanja nukleotidnih baza citozina, adenina i gvanina, a mutirani gen se prenosi na 50% potomaka što označava autosomno dominantno nasljeđivanje. Mutirani huntingtin gen dovodi do proizvodnje mutiranog proteina Huntingtin koji se postupno nakuplja unutar moždanih stanica uzrokujući oštećenje i staničnu smrt u određenim područjima mozga, sa predilekcijom u bazalnim ganglijima. Trijada simptoma u vidu nevoljnih pokreta, kognitivnih poremećaja te psihijatrijskih manifestacija su glavno obilježje u kliničkoj slici bolesti.Tijek bolesti je neumitno progresivan, te dovodi do smrti,prosječno oko 15 godina od samog početka.Dijagnoza se temelji na pozitivnoj obiteljskoj anamnezi, karakterističnim kliničkim nalazima i genteskom testiranju ;otkrivanju trinukleotidnih CAG ponavljanja u genu za huntingtin protein (>35 ponavljanja). Liječenje je simptomatsko te najčešće usmjereno na glavne simptome, koreju te psihijatarske poremećaje poput depresije i anksioznosti. Glavni cilj liječenja je poboljšati kvalitetu života te postponirati pojavu medicinskih komplikacija. Progresija bolesti dovodi pacijenta do potpune ovisnosti u svakodnevnom životu, što dovodi do potrebe za potpunu skrb pacijenta, te je neophodna multidisciplinarna zdravstvena njega i potpora, kako za oboljelog tako i za obitelji koje ujedno snosi i najveći teret bolesti.Posebnu važnost ima i genteska komponenta bolesti,koja za sobom povlači specifične implikacije za cijelu obitelj.
Abstract (english)
Huntington's disease is an inherited (autosomal-dominant) progressive and inevitably fatal neurodegenerative disease, which leads to the destruction and death of nerve cells in the brain. A mutation in the huntingtin gene consists of multiple repetitions of the nucleotide bases of cytosine, adenine and guanine, and the mutated gene is transmitted to 50% of offspring indicating autosomal dominant inheritance. The mutated huntingtin gene leads to the production of a mutated Huntingtin protein that gradually accumulates within brain cells causing damage and cell death in certain areas of the brain, with predilection in the basal ganglia. The triad of symptoms in the form of involuntary movements, cognitive disorders and psychiatric manifestations are the main features in the clinical picture of the disease. The course of the disease is unmistakably progressive, leading to death, on average, about 15 years from the beginning. The treatment is symptomatic and usually focuses on the main symptoms, chorea and psychiatric disorders such as depression and anxiety. The main goal of treatment is to improve the quality of life and to postpone the occurrence of medical complications. The progression of the disease leads the patient to complete dependence in daily life, leading to the need for complete patient care, and multidisciplinary health care and support is needed for both the patient and the families who bear the brunt of the disease. disease, which entails specific implications for the whole family.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:184:283839
Study programmeTitle: Professional study of nursing (Biomedicine and Healthcare; clinical medical sciences)
Study programme type: professional
Study level: undergraduate
Academic / professional title: stručni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) sestrinstva (stručni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) sestrinstva)
Type of resourceText
File originBorn digital
Access conditionsAccess restricted to students and staff of home institution
Terms of useLicence In copyright icon
Created on2019-12-12 10:23:50