| Author/Editor | Halec, Bine; Žunkovič, Olga; Horvat-Pinterić, Gordana; Lorber, Mateja | |
| Title | Kakovost življenja oseb s Pompejevo boleznijo | |
| Translated title | Quality of life of patients with Pompe disease | |
| Type | članek | |
| Vol. and No. | Letnik 55, št. 1 | |
| Publication year | 2021 | |
| Volume | str. 16-23 | |
| ISSN | 1318-2951 - Obzornik zdravstvene nege : strokovno glasilo Zveze društev medicinskih sester in zdravstvenih tehnikov Slovenije | |
| Language | slv | |
| Abstract | Uvod: Pompejeva bolezen spada med zelo redke prirojene metabolne bolezni; zanjo je značilen primanjkljaj ali odsotnost encima alfa-glukozidaza. Kopičenje glikogena v mišičnih celicah posledično privede do slabšanja mišične moči, močnih bolečin ter napredujočih težav z dihanjem. Namen raziskave je bil ugotoviti vpliv bolezni na kakovost življenja in negovalne probleme, ki se pri takšnem pacientu pojavijo. Metode: Uporabljena je bila kvalitativna metodologija raziskovanja. Izveden je bil delno strukturiran intervju s pacientko, ki ima diagnosticirano Pompejevo bolezen. Intervju smo posneli, dobesedno zapisali in analizirali z metodo analize besedila. Rezultati: Ugotovljeno je bilo, da je Pompejeva bolezen močno vplivala na kakovost življenja pacientke. Z metodo analize besedila je bilo identificiranih pet podkategorij: sprejetje bolezni; pomoč bližnjih; težave zaradi bolezni; izvajanje vsakodnevnih aktivnosti in zdravljenje. Podkategorije so bile nato združene v glavno kategorijo, poimenovano "vpliv na kakovost življenja". Prav tako je bilo izpostavljenih sedem negovalnih problemov: strah, žalost, oteženo dihanje, bolečina, obstipacija, utrujenost, nevarnost za padec.Diskusija in zaključek: Pompejeva bolezen močno spremeni kakovost življenja pacienta, saj se slednji srečuje s številnimi težavami na različnih področjih življenja. Za zagotavljanje višje kakovosti življenja in lažje izvajanje vsakodnevnih aktivnosti je pomembno, da pacient s Pompejevo boleznijo s strani bližnjih in zdravstvenih delavcev prejme ustrezno pomoč in podporo.Introduction: The Pompe disease is a very rare congenital disease. It is marked by a deficiency or absence of the alpha-glucosidase enzyme. Glycogen accumulation in muscle cells consequently leads to the weakening of muscle strength, intense pain and progressing breathing difficulties. The purpose of this research was to determine the impact of the disease on the quality of life and health care problems that these patients have. Methods: A qualitative research methodology was used. We conducted a semi-structured interview with a patient who was diagnosed with Pompe disease. The interview was recorded, transcribed and analyzed by using the method of content analysis.Results: It has been found that Pompe disease greatly affected patients' quality of life. Content analyses identified five subcategories: accepting the disease, help given by close family and friends, difficulties due to the disease, performing everyday activities and treatment. The subcategories were then combined into a main category 'the effects on the quality of life'. We also emphasized seven nursing care problems: fear, sadness, difficult breathing, pain, obstipation, fatigue, danger of falling. Discussion and conclusion: Pompe disease significantly changes patient's quality of life since these patients face many problems in different areas of life. To ensure a higher quality of life and simple performance of everyday activities, it is important that patients receive adequate help and support from close family and friends, and health care professionals | |
| Keywords | redke bolezni encimska nadomestna terapija kakovost življenja zdravstvena nega rare diseases enzyme replacement therapy nursing care quality of life |