20.500.12556/DKUM-73553 Kakovost življenja oseb s Pompejevo boleznijo Quality of life of patients with pompe disease Izhodišča: Pompejeva bolezen spada med redke prirojene metabolne bolezni, pri kateri je odsoten ali primanjkuje encim alfa-glukozidaza. Zaradi kopičenja glikogena v mišičnih celicah pride do slabšanja mišične moči, posledično tudi do močnih bolečin ter napredujočih težav z dihanjem. Edini način zdravljenja je zdravljenje z encimsko nadomestno terapijo, ki bolezenski proces močno upočasni. Namen zaključnega dela je predstaviti vpliv bolezni na kakovost življenja ter negovalne probleme, ki pri takšni osebi nastopijo. Raziskovalne metode: V empiričnem delu je bila uporabljena kvalitativna metodologija raziskovanja. Izveden je bil intervju z bolnico, ki ima diagnosticirano Pompejevo bolezen. Intervju je bil posnet, dobesedno zapisan in analiziran. Kodirana je bila vsaka vrstica in obdržane so bile le smiselne kode, katere se nanašajo na naš raziskovalni problem. Kode so bile nato smiselno kategorizirane. Rezultati: Ugotovljeno je bilo, da Pompejeva bolezen vpliva na kakovost življenja bolnice. Po analizi intervjuja smo izpostavili proste kode, ki smo jih razvrstili v pet podkategorij, ki se nanašajo na: sprejetje bolezni, pomoč bližnjih, težave zaradi bolezni, izvajanje vsakodnevnih aktivnosti in zdravljenje. Prav tako je bilo izpostavljenih sedem negovalnih problemov, s katerimi se bolnica srečuje ter podana navodila, ki bi jih glede na problem svetovali bolnici. Diskusija in zaključek: Ugotovljeno je bilo, da Pompejeva bolezen močno vpliva na kakovost življenja. Pri bolniku pride do številnih težav na različnih področjih življenja. Pomembno je, da bolna oseba v takšni situaciji dobi ustrezno pomoč s strani svojih bližnjih. Introduction: Pompe disease is one of the rare inherited metabolic diseases, where there is a lack of an enzyme alpha-glucosidase. The buildup of a glycogen in muscle cells causes muscle weakness and consequently severe pain and progressing breathing problems. The only way of treatment is with enzyme replacement therapy, which significantly slows down the progress of the disease. The purpose of this research is to present the influence of this disease on the quality of life and show the problems of taking care of a person that has it. Research methods: Qualitative methodology was used in the empirical work. An interview with a patient with diagnosed Pompe disease was made. The interview was taped, literally written and analyzed. Every line was coded and only the codes related to our research problem were kept. The codes were later on carefully categorized. Results: It was discovered that Pompe disease influences the patient's quality of life. After the interview analysis, we exposed the free codes, which we sorted into five subcategories that refer to: disease acceptance, help from the close ones, problems caused by the disease, every day activities and treatment. Seven nursing problems that the patient has to face were highlighted and the instructions, that we would suggest according to each problem, were given. Discussion and Conclusion: It has been discovered that the Pompe disease significantly influences the quality of life. The patient faces many difficulties in different areas of life. It is important that the person in this situation gets appropriate help from the loved ones. Pompejeva bolezen encimska nadomestna terapija kakovost življenja. Pompe disease enzyme replacement therapy the quality of life. true false false [B. Halec] Slovenski jezik Angleški jezik Diplomsko delo/naloga 2019-05-13 17:29:21 2019-07-19 09:22:06 2022-08-02 00:52:48 2019-07-26 11:36:50 2019 0 Maribor 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.8:613(043.2) 2513316 URN:SI:UM:DK:FVVNIW1W VS_Halec_Bine_2019.pdf VS_Halec_Bine_2019.pdf 1 CBFA09167C73459D434032C14D8CE915 a25fc14aa06faa8027702e3819197d1ac9d945b4afb8b82615ed72320d346768 c9f06862-7c10-11eb-bb7a-00155d0001ca 20.500.12556/dkum/808d665f-147b-4ca3-80fb-3ceb00851a7e https://dk.um.si/Dokument.php?lang=slv&id=135270 Fakulteta za zdravstvene vede 0 0 0