Pregled in ocena kazalcev bolezni otrok in mladostnikov s cistično fibrozo v Sloveniji

Drnovšek, Ana (author), Praprotnik, Marina (author), Krivec, Uroš (author), Aldeco, Malena (author), Lepej, Dušanka (author), Šetina Šmid, Saša (author), Zver, Aleksandra (author), Oštir, Majda (author), Seme, Katja (author), Brecelj, Jernej (author), Orel, Anija (author), Šmigoc Schweiger, Darja (author), Rodman Berlot, Jasna (author)

Izhodišča: Cistična fibroza (CF) je najpogostejša kronična avtosomno recesivno dedna bolezen belcev. Kaže se s prizadetostjo številnih organov, zato se bolniki spremljajo v centrih CF s specializiranim multidisciplinarnim timom strokovnjakov. Eden takih je center CF Pediatrične klinike Ljubljana, kjer se vodijo vsi otroci in mladostniki s CF v Sloveniji. Od ustanovitve centra dalje vodimo zbirko podatkov o bolnikih, ki nam je v pomoč pri analizi razmer in pri primerjavi kakovosti obravnave naših bolnikov z drugimi evropskimi centri CF. Metode: Izvedli smo retrospektivno raziskavo z namenom pregledati in oceniti kazalce bolezni otrok in mladostnikov s CF, vodenih na Pediatrični kliniki Ljubljana v letu 2020. Pri 78 vključenih bolnikih smo analizirali podatke o demografskih značilnostih, genetskih mutacijah, pljučni funkciji, prehranjenosti, kroničnih okužbah in zdravljenju s CFTR modulatornimi zdravili (angl. cystic fibrosis transmembrane conductance regulator, CFTR – regulator transmembranske prevodnosti pri cistični fibrozi). Za primerjavo z drugimi evropskimi centri smo uporabili podatke iz letnega poročila Evropskega registra CF za leto 2020. Rezultati: Leta 2020 smo v našem centru obravnavali 78 bolnikov, izmed katerih je bilo 56 % (44/78) bolnikov moškega spola. Povprečna starost bolnikov je znašala 13,2 leta (SD 6,4 let), z razponom od 1,2 leta do 25,5 leta. Mutacija F508del je bila najpogosteje zastopana, saj je bilo kar 88,5 % nosilcev vsaj ene, pri 64,1 % obolelih pa je bila mutacija prisotna na obeh alelih. Povprečni forsirani izdihani volumen v 1 sekundi (FEV1) naših bolnikov je bil nad evropskim povprečjem, prevalenca kronične okužbe s povzročiteljem Pseudomonas aeruginosa pa nižja od evropskega povprečja. V letu 2020 smo 21 bolnikom uvedli CFTR modulatorno zdravilo, od tega 5 bolnikom lumakaftor/ivakaftor in 16 bolnikom eleksakaftor/tezakaftor/ivakaftor. Zaključek: Kazalci kakovosti obravnave otrok in mladostnikov s CF v Sloveniji dosegajo in pogosto presegajo evropsko povprečje. Med prvimi državami v Evropi smo pričeli uvajati CFTR modulatorna zdravila, ki obetajo pomembno izboljšanje kliničnega stanja in kakovosti življenja bolnikov s CF.

• Language: Slovenian
• Keywords: otroci, pljučna funkcija, prehranjenost, mikrobiologija, zdravljenje
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2023
• Number of pages: Str. 285-292
• Numbering: Letn. 92, št. 7/8
• PID: 20.500.12556/RUL-152210
• UDC: 616-002.17-035.2
• ISSN on article: 1318-0347
• DOI: 10.6016/ZdravVestn.3399
• COBISS.SI-ID: 164923907
• Publication date in RUL: 13.11.2023

Record is a part of a journal

• Title: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva
• Publisher: Slovensko zdravniško društvo
• ISSN: 1318-0347
• COBISS.SI-ID: 32893696

Licences

• License: CC BY-NC 4.0, Creative Commons Attribution-NonCommercial 4.0 International
• Link: http://creativecommons.org/licenses/by-nc/4.0/
• Description: A creative commons license that bans commercial use, but the users don’t have to license their derivative works on the same terms.

Secondary language

• Language: English
• Title: Review and assessment of disease indicators in children and adolescents with cystic fibrosis in Slovenia

Abstract

Background: Cystic fibrosis (CF) is the most common chronic autosomal recessive genetic disorder in Caucasians. As it affects multiple organs, people with CF (pwCF) are treated by multidisciplinary teams of experts in specialized CF centers. One of these is the CF center at the University Children’s Hospital in Ljubljana, where all children and adolescents with CF in Slovenia are monitored. A database of patients that has been maintained since the center’s establishment helps us analyze conditions and compare our patients’ treatment quality with other European CF centers. Methods: We performed a retrospective study to review and assess disease indicators of children and adolescents with CF treated at the University Children’s Hospital in Ljubljana in 2020. We analyzed data on demographic characteristics, genetic mutations, lung function, nutrition, chronic infections, and CFTR modulator therapy (CFTR - cystic fibrosis transmembrane conductance regulator) of the 78 included patients. For comparison with other European centers, we used data from the 2020 annual report of the European CF registry. Results: In 2020, 78 patients were treated at our center, of which 56% (44/78) were male. The mean age of the patients was 13.2 years (SD 6.4 years), ranging from 1.2 years to 25.5 years. The F508del mutation was the most frequently represented, with 88.5% of patients being heterozygous, and 64.1% being homozygous for the mutation. Our patients’ mean forced expiratory volume in 1 second (FEV1) was above the European average, and the prevalence of chronic Pseudomonas aeruginosa infection was below the European average. In 2020, we introduced CFTR modulator therapy to 21 patients, of which five received lumacaftor/ivacaftor and 16 received elexacaftor/tezacaftor/ivacaftor. Conclusions: Indicators of treatment quality of children and adolescents with CF in Slovenia meet and often exceed the European average. We were among the first countries in Europe to introduce CFTR modulator therapy, which promises a significant improvement in the clinical condition and quality of life of pwCF.

• Keywords: children, lung function, nutrition, microbiology, therapy