(pregled literature)
Lovrenčič Teja (Author), Bernarda Djekić (Reviewer), Mirjam Ravljen (Mentor)

Abstract

Uvod: Birt-Hogg-Dube sindrom je redka avtosomno dominantna dedna bolezen, ki nastane zaradi mutacije gena folikulin. Beljakovina folikulin je prisotna v celicah in ima vlogo zaviralca rasti tumorjev. Za Birt-Hogg-Dubov sindrom so značilni benigni tumorji kože, maligni tumorji ledvic in ciste na pljučih, zaradi katerih pride do spontanega pnevmotoraksa. Pacienti imajo lahko le enega, dva ali pa vse tri izražene simptome. Najpogosteje izražena simptoma sta ciste na pljučih in fibrofolikulomi, ki se razvijeta pri 82–92 % pacientov z Birt-Hogg-Dube sindromom. Medicinska sestra ima pomembno vlogo pri obravnavi pacienta, prepoznavanju zapletov in spremljanju pacienta po postavitvi diagnoze. Izvaja zdravstveno vzgojo in s tem pripomore k boljšemu poznavanju in spoprijemanju pacienta s to obliko dednega obolenja. Namen: Namen diplomskega dela je predstaviti redko dedno bolezen Birt-Hogg- Dube sindrom, opisati mehanizem nastanka in zdravljenje spontanega pnevmotoraksa, malignih tumorjev ledvic in fibrofolikulomov ter izpostaviti vlogo medicinske sestre pri obravnavi pacientov z Birt-Hogg-Dube sindromom, ki imajo različno izražene simptome. Metode dela: Uporabljena je bila deskriptivna metoda dela s kritičnim pregledom slovenske in angleške znanstvene in strokovne literature s pomočjo elektronskih podatkovnih baz CINAHL in Medline. Uporabljeni so bili tudi zborniki, knjige in učbeniki. Pomagali smo si tudi z Google Učenjakom in tujimi strokovnimi spletnimi stranmi. Za vsebinsko sintezo je bilo uporabljenih 42 virov v angleškem jeziku in 12 slovenskih virov. Razprava in zaključek: Temeljne življenjske aktivnosti pri katerih se najpogosteje pojavijo negovalni problemi pacienta z Birt-Hogg-Dube sindromom so: Dihanje in krvni obtok, izogibanje nevarnostim v okolju, gibanje in ustrezna lega, osebna higiena in urejenost, odnosi z ljudmi, izražanje čustev. Ugotovili smo, da je obolenje zelo redko in še neraziskano, predvsem zaradi nizkega števila pacientov. Pomembno je izobraževanje zdravstvenih delavcev, da pravočasno prepoznajo dedno obolenje in s tem vplivajo na boljši izid zdravljenja, zmanjšajo zaplete pri zdravljenju in pripomorejo k boljši kvaliteti pacientovega življenja. Z izobraževanjem medicinskih sester, ki so ob pacientu stalno prisotne, bi se lahko število neodkritih pacientov z Birt-Hogg-Dube sindromom zmanjšalo.

Keywords

diplomska dela;zdravstvena nega;dedne bolezni;ciste na pljučih;spontani pnevmotoraks;tumorji ledvic;fibrofolikulomi;torakalna drenaža;

Data

Language: Slovenian
Year of publishing:
Typology: 2.11 - Undergraduate Thesis
Organization: UL ZF - University College of Health Studies
Publisher: [T. Lovrenčič]
UDC: 616-083
COBISS: 5388907 Link will open in a new window
Views: 1654
Downloads: 804
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Other data

Secondary language: English
Secondary title: Nursing care of patient with Birt-Hogg-Dube syndrome
Secondary abstract: Introduction: Birt-Hogg-Dube syndrome is a rare and hereditary autosomal dominant condition, which is caused by mutations in the Folliculin gene. Folliculin is a protein found in cells and acts as a tumor suppressor. Birt-Hogg-Dube syndrome is characterized by noncancerous tumors of the skin, cancerous tumors of the kidneys and pulmonary cysts, which are the cause of primary spontaneous pneumothorax. Patients may exhibit from one to a combination of all three symptoms. The most commonly manifested are fibrofolliculomas and pulmonary cysts, which occur in 82–92% of the patients diagnosed with Birt-Hogg-Dube syndrome. The nurse plays an important role in treating the patient, identifying complications, and watching the patient after diagnosis. They educate the patient on the condition and thus help them deal with the syndrome and contribute to their better understanding of it. Purpose: The purpose of this thesis is to introduce the rare and hereditary Birt-Hogg-Dube syndrome, describe the development and subsequent treatment of spontaneous pneumothorax, cancerous tumors of the kidneys and fibrofolliculomas, and to emphasize the role of nurses who treat patients that show different symptoms of the Birt-Hogg-Dube syndrome. Methodology: A descriptive method was applied for the means of the thesis, with a critical analysis of Slovenian and English scientific and specialised literature, using of CINAHL and Medline databases. Collections of scientific papers, books and specialised textbooks have also been used in the research, together with Google scholar and foreign specialised web pages. There were 42 English and 12 Slovenian relevant sources. Discussion and conclusion: When it comes to fundamental needs of human the most common nursing problems with Birt-Hogg-Dube patient's are: breathing normally, avoiding dangers in the environment and avoiding injuring others, keeping the body clean and well groomed, protecting the integument, communicating with others, maintaining relationships, and expressing emotions. We have concluded that the condition is extremely rare and under-researched, mainly due to the small number of patients with the condition. Educating health professionals is crucial, as it would help them to identify the hereditary condition in time and contribute to a better outcome of the treatment, reduce complications during treatments, and assure a better quality of life for the patients. Educating nurses, who are constantly by the patient's side, would greatly decrease the number of undetected cases with Birt-Hogg-Dube syndrome.
Secondary keywords: diploma theses;nursing care;hereditary diseases;pulmonary cysts;spontaneus pneumothorax;kidney tumors;fibrofolliculomas;thoracic drainage;
Type (COBISS): Bachelor thesis/paper
Study programme: 0
Thesis comment: Dipl. delo (bolonjski študij), Univ. v Ljubljani, Zdravstvena fak., Oddelek za zdravstveno nego
Pages: 27 str.
ID: 10915433