Učestalost genetskih bolesti i prirođenih malformacija u djece liječene na dječjoj kirurgiji Kliničkog bolničkog centra Zagreb

master's thesis

• Title (english): Prevalence of genetic disease and congenital malformations in children treated at the pediatric surgery of the University Hospital Center Zagreb
• Author: Dorotea Sinjeri
• Mentor: Tomislav Luetić (mentor)
• Committee member: Frane Paić (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Tomislav Luetić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Surgery); Zagreb
• Defense date and country: 2022-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Surgery

Abstract

Genetske bolesti nastaju uslijed promjena u slijedu DNA. Dijele se na monogenetske koje nastaju mutacijom jednog gena, poligenetske tj. multifaktorske čiji mehanizam nastanka čine kombinacija mutacije više gena i djelovanja okolišnih čimbenika i kromosomopatije. Rezultiraju nekom od prirođenih malformacija koje često zahtjevaju kirurško liječenje i detaljno genetičko testiranje. Učestalost genetskih bolesti i malformacija u kirurški liječene djece na KBC-u Zagreb, u periodu 2018.-2020., iznosi 41.39%. Ta su djeca mlađa u odnosi na djecu kirurški liječenu radi bolesti druge etiologije, također su hospitalizirana dulje na odjelima dječje kirurgije i pedijatrije te odjelu intenzivne njege, zahtjevaju više operacijskih zahvata što onda donosi i veće troškove liječenja. Velika je važnost pravovremenog otkrivanja malformacija, ali i uzroka istima kako bi se pravovremeno krenulo s liječenjem te eventualno prevenirala daljnja progresija bolesti. Potrebna su veća ulaganja i u genetičko savjetovanje kako bi se malim pacijentima pružila potpuna skrb, psihološka potpora i omogućilo im bolje razumijevanje njihovih dijagnoza.

Abstract (english)

Genetic diseases are caused by changes in the DNA sequence. They are divided into monogenetic, which are formed by the mutation of one gene, polygenetic or multifactorial ones, whose mechanism of origin is a combination of mutation of several genes and the action of environmental factors and chromosomopathies. They result in some of the congenital malformations that often require surgical treatment and detailed genetic testing. The frequency of genetic diseases and malformations in surgically treated children at the University Hospital Center Zagreb, in the period from 2018 to 2020, is 41.39%. These children are younger than children surgically treated for another cause. They are also hospitalized longer in the departments of pediatric surgery and the department of pediatrics and also in the intensive care unit, require more surgery, thus leading to higher treatment costs. It is very important to detect malformations in a timely manner, as well as to detect their cause and start treatment as soon as possible to prevent further progression of the disease. Greater investment is also needed in genetic counseling to provide young patients with complete care, psychological support and a better understanding of their diagnoses.

• Keywords: genetske bolesti; prirođene malformacije; prevalencija; genetičko testiranje
• Keywords (english): genetic diseases; congenital malformations; prevalence; genetic testing
• Language: croatian
• URN:NBN: urn:nbn:hr:105:792031
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-02-15 12:00:21