Cistična fibroza u eri CFTR modulatora

master's thesis

• Title (english): Cystic fibrosis in the era of CFTR modulators
• Author: Lucija Josić
• Mentor: Andrea Vukić Dugac (mentor)
• Committee member: Duška Tješić-Drinković (predsjednik povjerenstva)
• Committee member: Marko Jakopović (član povjerenstva)
• Committee member: Andrea Vukić Dugac (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Cistična fibroza je autosomno recesivna nasljedna bolest koja ima progresivan tijek i zahvaća brojne epitelne organe.

Cilj istraživanja je bio procijeniti učinkovitost liječenja trojnom terapijom eleksakaftor/tezakaftor/ivakaftor adultnih pacijenata sa cističnom fibrozom. Istražili smo povezanost između pokazatelja plućne funkcije, indeksa tjelesne mase i sastava tijela procijenjenog bioimpedancijom prije početka i nakon minimalno šestomjesečne terapije CFTR (od engl. cystic fibrosis transmembrane regulator) modulatorima, uz praćenje nuspojava i komplikacija terapije.

U istraživanju su sudjelovala 44 odrasla pacijenta oboljela od cistične fibroze koja se liječe u Centru za cističnu fibrozu djece i odraslih u Kliničkom bolničkom centru Zagreb. Prikupljeni su demografski, antropometrijski i klinički podaci (testovi plućne funkcije pomoću spirometrije i rezultati bioelektrične impedancijske analize pomoću Tanita vage).

Analiza je pokazala značajan porast svih praćenih vrijednosti plućne funkcije nakon uzimanja terapije te pad kronične kolonizacije pluća najčešćim patogenima. Rezultati su pokazali i porast indeksa tjelesne mase te parametara analize sastava tijela bioimpedancijom. Trojna terapija smanjila je broj hospitalizacija, plućnih egzacerbacija, antibiotskog liječenja te ukazala na dobar sigurnosni profil bez težih nuspojava.

Trojna terapija eleksakaftor/tezakaftor/ivakaftor znatno poboljšava kliničku sliku pacijenta oboljelog od cistične fibroze te neupitno unaprjeđuje kvalitetu života oboljelog.

Abstract (english)

Cystic fibrosis is an autosomal recessive hereditary disease which has a progressive course and affects numerous epithelial organs.

The aim of the study was to evaluate the effectiveness of treatment by triple therapy of elexacaftor/tezacaftor/ivacaftor in adult patients with cystic fibrosis. We explored the connection between indicators of lung function, body mass index and body composition estimated by bioimpedance before starting and after a minimum of six months of therapy with CFTR (cystic fibrosis transmembrane regulator) modulators, while monitoring possible side effects and complications of said therapy.

44 patients with cystic fibrosis who are treated at the Center for Cystic Fibrosis of Children and Adults at the Zagreb Clinical Hospital Center participated in the research. Demographic, anthropometric and clinical data were collected (pulmonary function tests using spirometry and results of bioelectrical impedance analysis using a Tanita scale).

The analysis showed a significant increase in all monitored lung function values after taking the therapy and a decrease in chronic lung colonization by the most common pathogens. The results showed an increase in body mass index and the parameters of body composition analysis by bioimpedance. The triple therapy reduced the number of hospitalizations, pulmonary exacerbations and antibiotic treatment and indicated a good safety profile without severe side effects.

The elexacaftor/tezacaftor/ivacaftor triple therapy significantly improves the clinical picture of a patient with cystic fibrosis and it undoubtedly improves the patient's quality of life.

• Keywords: cistična fibroza; CFTR modulatori; plućna funkcija; nutritivni status
• Keywords (english): cystic fibrosis; CFTR modulators; pulmonary function; nutritional status
• Language: croatian
• URN:NBN: urn:nbn:hr:105:168390
• 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: 2023-10-25 09:38:03