Kvaliteta života pacijenata s fenilketonurijom u Hrvatskoj

master's thesis

• Title (english): Quality of life of patients with phenylketonuria in Croatia
• Author: Maja Alaber
• Mentor: Ivo Barić (mentor)
• Committee member: Danijela Petković Ramadža (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Ivo Barić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2021-07-16, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

UVOD: Fenilketonurija je rijetki nasljedni poremećaj metabolizma aminokiseline fenilalanina s incidencijom u Hrvatskoj od oko 1 na 8300 novorođenčadi. Liječenje fenilketonurije uključuje doživotnu strogu niskoproteinsku dijetu te uzimanje pripravaka aminokiselina bez fenilalanina. Ideja liječenja je održavanje niskih netoksičnih koncentracija fenilalanina u krvi koje sprječavaju mentalno zaostajanje. Iako sprječava neurokognitivne simptome bolesti, stroga dijetna terapija predstavlja psihološko, socijalno, a nerijetko i financijsko opterećenje za pacijente i njihove obitelji. ----- CILJ: Cilj ovog istraživanja bio je procijeniti fiziološke, emocionalne i socijalne utjecaje fenilketonurije na bolesnike u Hrvatskoj i njihove roditelje koristeći standardizirane upitnike kvalitete života za fenilketonuriju (PKU-QoL). ----- METODE: Istraživanje je provedeno u Kliničkom bolničkom centru Zagreb, a uključivalo je 60 ispitanika (2 djeteta, 6 adolescenata, 22 odrasle osobe i 30 roditelja). Kvaliteta života ispitana je upitnicima PKU-QoL. Ostali podatci poput koncentracije fenilalanina u krvi dobiveni su iz Bolničkog informacijskog sustava. Rezultati kvalitete života podijeljeni su u četiri domene: simptome fenilketonurije, utjecaj fenilketonurije na svakodnevan život, pridržavanje niskoproteinske dijete i uzimanje pripravaka aminokiselina bez fenilalanina. Pomoću Mann-Wittneyevog U-testa uspoređena je kvaliteta života između pojedinih dobnih skupina bolesnika, a korelacija metaboličke kontrole bolesti i kvalitete života izračunata je Spearmanovim testom. ----- REZULTATI: Rezultati upitnika PKU-QoL pokazali su da je najčešći simptom bolesti umor. Fenilketonurija emocionalno opterećuje pacijente te oni često osjećaju grižnju savjesti ako se ne pridržavaju dijetne terapije. Najveći utjecaj na život ima anksioznost zbog visokih koncentracija fenilalanina u krvi tijekom trudnoće. Usporedbom rezultata dobnih skupina, populacija odraslih najlošije se pridržava dijetne terapije te češće ima promjene raspoloženja. Pronađena je povezanost između loše metaboličke kontrole bolesti s neurokognitivnim smetnjama kao i s nepridržavanjem niskoproteinske dijete. ----- ZAKLJUČAK: U Hrvatskoj pacijente s fenilketonurijom i njihove roditelje bolest najviše opterećuje emocionalno, a najpogođenija je dobna skupina odraslih bolesnika.

Abstract (english)

BACKGROUND: Phenylketonuria is a rare inherited disorder of phenylalanine amino acid metabolism with an incidence in Croatia of about 1 in 8300 newborns. Treatment of phenylketonuria includes a life-long strict low-protein diet therapy with supplements containing all amino acids except phenylalanine. The idea of the treatment is to maintain low non-toxic concentrations of the phenylalanine in the blood to prevent mental retardation. Although diet therapy prevents neurocognitive symptoms of the disease it can cause psychological, social and frequently financial burden for patients and their families. ----- AIM: The aim of this study was to evaluate physiological, emotional and social impacts of phenylketonuria among Croatian patients and their parents using standardized PKU-QoL questionnaires. ----- METHODS: The study was conducted in the Clinical Hospital Centre Zagreb and included 60 participants (2 children, 6 adolescents, 22 adults and 30 parents). Quality of life was assessed by PKU-QoL questionnaires. Other data such as phenylalanine blood levels were obtained from Hospital Information System. Quality of life scores were divided into four domains: symptoms of phenylketonuria, the impact of phenylketonuria on daily-life, maintenance of a low-protein diet and consumption of amino acid supplements without phenylalanine. Quality of life between age groups of patients was compared using Mann-Wittney U test, and the correlation between metabolic control and quality of life was calculated by the Spearman test. ----- RESULTS: The results of the PKU-QoL questionnaire showed that the most common symptom of the disease is fatigue. Also phenylketonuria is emotionally burdensome and patients often feel guilty if they do not follow their diet therapy. The greatest impact on life is anxiety due to high concentrations of phenylalanine in blood during pregnancy. Comparing the results between age groups, adult population adheres worst to diet therapy and has more frequent mood swings. An association of poor metabolic control was found with both neurocognitive symptoms and poor adherence to a low-protein diet. ----- CONCLUSION: In Croatia patients with phenylketonuria and their parents are mostly emotionally burdened by the disease, and the most affected age group are adults.

• Keywords: fenilketonurija; kvaliteta života; PKU-QoL
• Keywords (english): phenylketonuria; quality of life; PKU-QoL
• Language: croatian
• URN:NBN: urn:nbn:hr:105:691084
• 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: 2022-01-20 12:23:25