Rijetke bolesti

undergraduate thesis

• Title (english): Rare diseases
• Author: Darija Geček
• Mentor: Marko Buljevac (mentor)
• Committee member: Marko Buljevac (predsjednik povjerenstva)
• Committee member: Zdravka Leutar (član povjerenstva)
• Committee member: Ana Opačić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Law; (In social work); (Social Work with Disabled Persons); Zagreb
• Defense date and country: 2020-09-24, Croatia
• Scientific / art field, discipline and subdiscipline: SOCIAL SCIENCES; Social Activities; Specific Areas of Social Work

Abstract

Rijetke bolesti pogađaju mali broj ljudi i različito su definirale u različitim dijelovima svijeta budući da bolesti koje su rijetke na jednom području mogu biti vrlo česte na drugom. Iznesena su općenita znanja o rijetkim bolestima iako postoji još puno nepoznanica vezano uz ovu temu iz razloga što se te bolesti pojavljuju kod malog broja ljudi te se ne prepoznaju simptomi i znakovi bolesti, a samim time otežano je i definiranje te dijagnosticiranje istih. Bitan aspekt u obradi ove teme su i tzv. „lijekovi siročad“ - lijekovi koji se koriste u terapijske svrhe u liječenju rijetkih bolesti, a koji su često i nedostupni oboljelima. U radu je naglasak stavljen na zdravstvene i socijalne aspekte rijetkih bolesti s detaljnijim osvrtom na status osoba oboljelih od rijetkih bolesti u Republici Hrvatskoj gdje su istaknuti sustavi u kojima osobe oboljele od rijetkih bolesti ostvaruju prava i usluge. Važnu ulogu kod rijetkih bolesti imaju različita udruženja na svjetskoj i nacionalnoj razini koja doprinose povećanju znanja o rijetkim bolestima i kvalitete života oboljelih osoba. Također, u ovom radu detaljnije su opisane tri rijetke bolesti, a to su Majewski osteoplastični primordijalni dvarfizam tip Ⅱ, Hunterov sindrom i Omennov sindrom.

Abstract (english)

Rare diseases affect a small number of people and are defined differently in different parts of the world as diseases that are rare in one area can be very common in another. General knowledge about rare diseases is presented in this paper, although there are still many unknowns related to this topic due to the fact that these diseases occur in a small number of people and the symptoms and signs of the disease are difficult to recognize making it difficult to define and diagnose them. An important aspect of this topic are the so-called "orphan drugs" - drugs used for therapeutic purposes in the treatment of rare diseases which are often unapproachable to patients. This paper emphasizes the health and social aspects of rare diseases with a more detailed review of the status of persons suffering from rare diseases in the Republic of Croatia, highlighting the systems in which persons suffering from rare diseases exercise their rights and services. An important role in rare diseases is played by various associations at the global and national level which contribute to increasing knowledge about rare diseases and the quality of life of patients. Also, three rare diseases are described in more detail in this paper, namely Majewski osteoplastic primordial dwarfism type Ⅱ, Hunter syndrome and Omenn syndrome.

• Keywords: Ključne riječi: rijetke bolesti; lijekovi siročad; Majewski osteoplastični primordijalni dvarfizam tip Ⅱ; Hunterov sindrom; Omennov sindrom
• Keywords (english): Key words: rare diseases; orphan drugs; Majewski osteodysplastic primordial dwarfism type II; Hunter syndrome; Omenn syndrome
• Language: croatian
• URN:NBN: urn:nbn:hr:199:425495
• Study programme: Title: Social Work; Study programme type: university; Study level: undergraduate; Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) socijalnog rada (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) socijalnog rada)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Closed access
• Created on: 2020-09-26 12:31:40