Title "Albinizam - genetika, kvalitetea života, terapijske opcije"
Title (english) "Albinism - genetics, quality of life, therapeutic options"
Author Martina Kepić
Mentor Ana Bakija Konsuo (mentor)
Committee member Marija Radonić (predsjednik povjerenstva)
Committee member Marko Margaritoni (član povjerenstva)
Committee member Ana Bakija Konsuo (član povjerenstva)
Granter University of Dubrovnik (Department for Professional Studies) Dubrovnik
Defense date and country 2023-11-20, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Clinical Medical Sciences Dermatovenerology
Abstract Poremećaji pigmentacije nastaju zbog povećanog ili smanjenog taloženja pigmenta u koži, kosi i očima. Povećena koliĉina pigmenta dovodi do stvaranja hiperpigmentacija. Nedostatak pigmenta nazivamo depigmentacija dok djelomičan gubitak pigmenta nazivamo hipopigmentacijom. I depigmentacijske i hipopigmentacijske bolesti mogu biti nasljedne ili stečene.
U radu opisujemo nekoliko najčešćih bolesti koje su posljedica poremećaja pigmentacije s posebnim osvrtom na albinizam i vitiligo, genetsku osnovu albinizma, njihovu kliničku sliku, dijagnostičke i terapijske opcije te na kvalitetu života kod oboljelih.
Albinizam je bolest koja spada u nasljedne depigmentacije kada dolazi do odsutnosti pigmenta melanina u koži, kosi i očima. Bolest nastaje zbog kongenitalnog defekta u stvaranju i transportu melanina. Razlikujemo dva glavna oblika: okularni i okulokutani. Vitiligo je stečeni gubitak funkcionalnih melanocita koji posljedično dovode do područja depigmentiranosti kože i sluznica.
Oboljeli sa kliničkom slikom depigmentacije svakodnevno se susreću s brojnim teškoćama poput verbalnog nasilja, stigmatizacije i odbacivanja što sve dovodi do negativnih osjećaja srama, nelagode, niskog samopoštovanja i loše slike o sebi i svom tijelu. Dodatno, oboljeli se susreću i s nepostojanjem adekvatne terapije. Sve navedene poteškoće smanjuju i nepovoljno djeluju na kvalitetu života, stoga je potrebno skrenuti pažnju zdravstvenih stručnjaka na psihološke i društvene poteškoće s kojima se oboljeli svakodnevno susreću, upoznati populaciju s navedenim bolestima te educirati obitelj oboljeloga kako bi pružili adekvatnu podršku.
Kod oboljelih potrebna je obavezna i svakodnevna fotoprotekcija te izbjegavanje izlaganja Suncu kao i redovite kontrole dermatologa i oftalmologa zbog rane pojave karcinoma kože i očiju. Posebno ističemo kako danas mogu značajno pomoći udruge oboljelih koje se formiraju putem društvenih mreža.
Abstract (english) Pigmentation disorders are due to increased or decreased pigmentation deposits in the skin, hair and eyes. The increased amount of pigment leads to hyperpigmentation. Pigment deficiency is called depigmentation, while partial pigment loss is called hypopigmentation. Both depigmentation and hypopigmentation diseases may be inherited or acquired.
In this paper we describe several of the most common diseases resulting from pigmentation disorders with special attention to albinism and vitíligo, genetic basis of albinism, their clinical picture, diagnostic and therapeutic options and quality of life in patients.
Albinism is a disease that belongs to hereditary depigmentation when there is absence of melanin pigment in the skin, hair and eyes. The disease is due to a congenital defect in the production and transport of melanin. We distinguish two main shapes: ocular and oculocutaneous. Vitiligo is the acquired loss of functional melanocytes resulting in areas of depigmentation of the skin and mucous membranes.
Patients with a clinical image of depigmentation face many problems every day, such as verbal violence, stigmatization and rejection, which all lead to negative feelings of shame, discomfort, low self-esteem and poor self-image of their body. In addition, patients also face a lack of adequate therapy. All these difficulties reduce and adversely affect the quality of life, so it is necessary to draw the attention of health professionals to the psychological and social problems that patients encounter on a daily basis, familiarize the population with these diseases and educate the family of patients in order to provide adequate support.
Patients also require daily photoprotection and avoiding exposure to the sun, as well as regular monitoring of dermatologists and oftalmologa due to early occurrence of skin and eye cancers. In particular, as today, associations of patients forming through social networks can significantly help.
Keywords
Albinizam
vitiligo
genopatija
melanin
depigmentacije
Keywords (english)
albinism
genopathy
melanin
depigmentatio
Language croatian
URN:NBN urn:nbn:hr:155:600711
Study programme Title: Nursing Study programme type: professional Study level: undergraduate Academic / professional title: prvostupnik/prvostupnica (baccalaureus/baccalaurea) sestrinstva (prvostupnik/prvostupnica (baccalaureus/baccalaurea) sestrinstva)
Type of resource Text
File origin Born digital
Access conditions Open access
Terms of use
Created on 2023-11-23 11:30:32