Palijativna skrb u oboljelih od amiotrofične lateralne skleroze

master's thesis

• Title (english): Palliative care in amyotrophic lateral sclerosis
• Author: Dragana Zubak
• Mentor: Ervina Bilić (mentor)
• Committee member: Zdravka Poljaković (predsjednik povjerenstva)
• Committee member: Mario Habek (član povjerenstva)
• Committee member: Ervina Bilić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Neurology); Zagreb
• Defense date and country: 2018-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Neurology

Abstract

Amiotrofična lateralna skleroza (ALS) je progresivna, neurodegenerativna bolest koju karakteriziraju znaci poremećaja gornjeg i/ili donjeg motoneurona. Znaci gornjeg motoneurona uključuju spastičnost, pseudobulbarni efekt, hiperrefleksiju i patološke reflekse. Zahvaćenost donjeg motoneurona očituje se kao slabost i atrofija mišića, fascikulacije, grčevi i hiporefleksija. Prvi znak bolesti može biti asimetrična slabost i atrofija mišića ekstremiteta ili se najprije javljaju bulbarni simptomi. Bolest je progresivna i atrofija postepeno zahvaća sve mišiće. Incidencija ALS-a iznosi 1,8 na 100.000 svjetskog stanovništva. ALS u 90% slučajeva nastaje sporadično, dok je 10% familijarno. Srednja dob u kojoj se javlja sporadični tip bolesti je 65 godina, dok se nasljedni oblik javi nešto ranije. Uzrok nastanka ALS-a nije poznat. U 20% familijarnih oblika i u 5% sporadičnih oblika ALS-a, nađena je mutacija gena koji kodira enzim SOD1, snažni antioksidans, ali sam mehanizam nastanka bolesti i dalje je nepoznat. Kao uzrok nastanka ALS-a danas se spominje toksično djelovanje glutamata, poremećaj imunoloških procesa, trovanje teškim metalima i pušenje. Dijagnoza ALS-a se temelji na kliničkoj slici i isključenjem sličnih bolesti. Iako je ALS fatalna neurološka bolest, uz prosječno preţivljenje od 3 godine od pojave simptoma, terapija i palijativna skrb, mogu produţiti ţivot i omogućiti bolju kvalitetu života.

Abstract (english)

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by loss of upper and/or lower motor neurons. The clinical correlates of UMN disease include spasticity, pseudobulbar effect, hyperreflexia, and pathologic reflexes. LMN disease manifests as weakness, atrophy, fasciculations, cramps, and hyporeflexia. Affected individuals typically present with either asymmetric weakness and muscle atrophy of the extremities or with bulbar symptoms. The disease generally progresses rapidly, and gradually all muscles under voluntary control are affected. The worldwide annual incidence of ALS is about 1.8 per 100,000 population. ALS is sporadic in 90% of cases, whereas only 10% is familial. The mean age at onset of sporadic ALS is 65 years and a few years earlier for familial ALS. The cause of ALS is unknown. Mutations in the SOD1 gene account for 20% of familial and 5% of sporadic ALS. However, the precise mechanism by which mutant SOD1 leads to motor neuron degeneration has not been defined with certainty. Other possible causes include higher than normal levels of glutamate, impairment of the immune system, toxic metal poisoning, and smoking. The diagnosis of ALS is based on the clinical features and exclusion of conditions that can mimic ALS. Even though ALS is a fatal disease, with an average survival of 3 years from onset, adequate therapy and early palliative care can improve quality of life and prolong life in ALS patients.

• Keywords: neurodegenerativna bolest; gornji i donji motoneuron; bulbarni simptomi; palijativna skrb
• Keywords (english): neurodegenerative disease; upper and lower motor neuron; bulbar symptoms; palliative care
• Language: croatian
• URN:NBN: urn:nbn:hr:105:216467
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2018-12-19 13:24:04