Title HUNTINGTONOVA BOLEST Title (english) HUNTINGTON'S DISEASE Author Iva Šušnjar Mentor Olivio Perković (mentor)Mentor Iva Sorta-Bilajac (komentor)Committee member Toni Valković (predsjednik povjerenstva) Committee member Mira Bučuk (član povjerenstva)Committee member Olivio Perković (član povjerenstva)Granter University of Rijeka Defense date and country 2019-09, Croatia Scientific / art field, BIOMEDICINE AND HEALTHCARE 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
huntingtin
koreja
kognitivna disfunkcija
psihijatrijski simptomi
zdravstvena skrb
Keywords (english)
huntingtin
chorea
cognitive dysfunction
psychiatric symptoms
health care
Language croatian URN:NBN urn:nbn:hr:184:283839 Study programme Title: Professional study of nursing (Biomedicine and Healthcare; clinical medical sciences) Type of resource Text File origin Born digital Access conditions Access restricted to students and staff of home institution Terms of use Created on 2019-12-12 10:23:50
