Cystic Fibrosis – results of CFTR modulators in Croatia

Cistična fibroza najčešća je nasljedna bolest, koja skraćuje životni vijek, a uzrokuje je defekt u genu za transmembranski regulator provodljivosti cistične fibroze (eng. cystic fibrosis transmembrane regulator – CFTR). Poremećena je homeostaza elektrolita, što se očituje simptomima u više organskih sustava. Plućne manifestacije, s kroničnim infekcijama, upalom i, na kraju, respiratornim zatajenjem, ostaju i dalje najvažnija prijetnja životnom vijeku bolesnika. Do prije jednog desetljeća bilo je dostupno samo simptomatsko liječenje. Od 2012. g. dostupno je liječenje tzv. modulatorima CFTR-proteina i njihovim kombinacijama za osobe s cističnom fibrozom koje nose različite varijante CFTR-gena. Pojavom tih lijekova uvelike se promijenila perspektiva i kvaliteta života ljudi s cističnom fibrozom, ali postavljeni i novi izazovi u vezi s dugoročnim komplikacijama, pitanje eventualnog smanjenja konvencionalnog liječenja, ali i financiranja terapije, koja je mnogim bolesnicima nedostupna. Iznesene su bazične spoznaje o cističnoj fibrozi i funkciji CFTR-proteina, klasifikaciji varijanata CFTR-gena, mogućnostima liječenja CFTR-modulatorima te osnovni ishodi liječenja bolesnika s cističnom fibrozom u Hrvatskoj, gdje se ta terapija primjenjuje od jeseni 2021. godine.Cystic fibrosis, the most frequent lifespan shortening hereditary disease in Caucasians, is caused by a defect in the CFTR (cystic fibrosis transmembrane regulator) gene. Disturbed electrolyte homeostasis leads to the development of different symptoms in multiple organs. Pulmonary manifestations with chronic infections and inflammation result in respiratory failure and remain the most important life-shortening factor. Until recently only symptomatic treatment was available. In year 2012. a new treatment approach with small molecules that modulate the CFTR protein was introduced. Different combinations of CFTR modulators are applicable to certain patients carrying different variants of the CFTR gene. CFTR modulators made a huge difference in the quality of life and perspectives of people with cystic fibrosis. At the same time, new challenges emerged regarding long term complications and possible reduction of conventional treatment options, as well as financial issues that are an obstacle to the use of these drugs for many patients. This paper brings basic insight into cystic fibrosis, the function of CFTR protein, the classification of CFTR gene variants and possibilities of treatment with CFTR modulators as well as basic outcomes of CFTR modulators treatment in Croatia, where this therapy was introduced in autumn 2021

Adherence of adult patients with cystic fibrosis and impact on their life quality

Cistična fibroza autosomno je recesivna nasljedna bolest, i jedna od najčešćih nasljednih bolesti bjelačke populacije. Budući da do sada nije provedeno epidemiološko istraživanje o točnoj prevalenciji u Republici Hrvatskoj, pretpostavlja se da je broj oboljelih oko 200. Bolest je multisistemna, te se od svakog člana interdisciplinarnog tima očekuje maksimalno zalaganje kako bi kompleksna skrb za bolesnika bila potpuna. Cilj ovoga rada je utvrditi u kolikoj mjeri adherencija utječe na funkcionalni status bolesnika i njegovu kvalitetu života, te koliko je važna sestrinska edukacija odraslih bolesnika s cističnom fibrozom u poboljšanju istog. Istraživanje je provedeno na 26 bolesnika na Klinici za plućne bolesti Jordanovac, Klinički bolnički centar Zagreb, korištenjem anonimnih licenciranih upitnika i anamnestičkih podataka te provođenjem strukturirane sestrinske edukacije u svrhu osvještenja važnosti liječenja koje je svakodnevno i doživotno. Osim dokazivanja srednje jake pozitivne povezanost između BMI i FEV1 , utvrđeno je koliko se ispitanici pridržavaju, te koji su glavni uzroci nepridržavanja propisane terapije prije i nakon edukacije. Iako inicijalni rezultati istraživanja pokazuju da postoje blagi pozitivni pomaci u adherenciji ispitanika prije i poslije, nije dokazana njihova stastistička značajnost što se povezuje s malim uzorkom i kratkim vremenskim periodom od provedene edukacije. Ovo samo ide u prilog tome da edukacija mora uključivati cijeli tim zdravstvenih profesionalaca i mora biti konstantna i dosljedna. Adherencija ima veliki utjecaj na funkcionalni status i kvalitetu života, a ključnu ulogu u poboljšanju adherencije ima i sam bolesnik te njegovo odgovorno shvaćanje bolesti.Cystic fibrosis is an autosomal recessive inherited disease, one of the most common inherited diseases of the white population. Since no epidemiological survey on the exact prevalence in the Republic of Croatia has been conducted so far, it is estimated that the number of patients is around 200. The disease is multisystemic, and each member of the interdisciplinary team is expected to make maximum efforts to ensure that complex patient care is complete. The aim of this paper is to determine the extent to which adherence affects the patient's functional status and quality of life, and how important nursing education for adult patients with cystic fibrosis is in improving it. The study was conducted on 26 patients at the Clinic for Pulmonary Diseases Jordanovac, Clinical Hospital Center Zagreb, using anonymous licensed questionnaires and anamnestic data while conducting structured nursing education to raise awareness of the importance of daily and lifelong treatment. In addition to demonstrating a moderately positive correlation between BMI and FEV1, extent to which participants adhered to it has been identified with the main causes of non-adherence to prescribed therapy before and after education. Although the initial results of the research show that there are slight positive shifts in the adherence of the subjects before and after, statistics significance was not proven, which is related to the small sample and the short period of time since the education was conducted. This only goes to show that education must involve the entire team of healthcare professionals and to be constant and consistent. Adherence has a major impact on functional status and quality of life, the patient themselves and their responsible understanding of the disease play a key role in improving adherence

Adherence of adult patients with cystic fibrosis and impact on their life quality

Cistična fibroza autosomno je recesivna nasljedna bolest, i jedna od najčešćih nasljednih bolesti bjelačke populacije. Budući da do sada nije provedeno epidemiološko istraživanje o točnoj prevalenciji u Republici Hrvatskoj, pretpostavlja se da je broj oboljelih oko 200. Bolest je multisistemna, te se od svakog člana interdisciplinarnog tima očekuje maksimalno zalaganje kako bi kompleksna skrb za bolesnika bila potpuna. Cilj ovoga rada je utvrditi u kolikoj mjeri adherencija utječe na funkcionalni status bolesnika i njegovu kvalitetu života, te koliko je važna sestrinska edukacija odraslih bolesnika s cističnom fibrozom u poboljšanju istog. Istraživanje je provedeno na 26 bolesnika na Klinici za plućne bolesti Jordanovac, Klinički bolnički centar Zagreb, korištenjem anonimnih licenciranih upitnika i anamnestičkih podataka te provođenjem strukturirane sestrinske edukacije u svrhu osvještenja važnosti liječenja koje je svakodnevno i doživotno. Osim dokazivanja srednje jake pozitivne povezanost između BMI i FEV1 , utvrđeno je koliko se ispitanici pridržavaju, te koji su glavni uzroci nepridržavanja propisane terapije prije i nakon edukacije. Iako inicijalni rezultati istraživanja pokazuju da postoje blagi pozitivni pomaci u adherenciji ispitanika prije i poslije, nije dokazana njihova stastistička značajnost što se povezuje s malim uzorkom i kratkim vremenskim periodom od provedene edukacije. Ovo samo ide u prilog tome da edukacija mora uključivati cijeli tim zdravstvenih profesionalaca i mora biti konstantna i dosljedna. Adherencija ima veliki utjecaj na funkcionalni status i kvalitetu života, a ključnu ulogu u poboljšanju adherencije ima i sam bolesnik te njegovo odgovorno shvaćanje bolesti.Cystic fibrosis is an autosomal recessive inherited disease, one of the most common inherited diseases of the white population. Since no epidemiological survey on the exact prevalence in the Republic of Croatia has been conducted so far, it is estimated that the number of patients is around 200. The disease is multisystemic, and each member of the interdisciplinary team is expected to make maximum efforts to ensure that complex patient care is complete. The aim of this paper is to determine the extent to which adherence affects the patient's functional status and quality of life, and how important nursing education for adult patients with cystic fibrosis is in improving it. The study was conducted on 26 patients at the Clinic for Pulmonary Diseases Jordanovac, Clinical Hospital Center Zagreb, using anonymous licensed questionnaires and anamnestic data while conducting structured nursing education to raise awareness of the importance of daily and lifelong treatment. In addition to demonstrating a moderately positive correlation between BMI and FEV1, extent to which participants adhered to it has been identified with the main causes of non-adherence to prescribed therapy before and after education. Although the initial results of the research show that there are slight positive shifts in the adherence of the subjects before and after, statistics significance was not proven, which is related to the small sample and the short period of time since the education was conducted. This only goes to show that education must involve the entire team of healthcare professionals and to be constant and consistent. Adherence has a major impact on functional status and quality of life, the patient themselves and their responsible understanding of the disease play a key role in improving adherence