| Abstract | Cistična fibroza (CF, engl. cystic fibrosis) nasljedna je multisustavna bolest autosomno-recesivnog
obrasca nasljeđivanja čije je liječenje u posljednjem desetljeću neoborivi dokaz napretka medicine
i znanosti. Procjenjuje se da u svijetu približno 100 000 osoba boluje od CF. Nastaje kao posljedica
mutacije u genu koji kodira CFTR (engl. cystic fibrosis transmembrane conductance regulator,
transmembranski regulator provodljivosti cistične fibroze) protein koji je po funkciji
transmembranski kanal odgovoran za prijenos prvenstveno kloridnih iona preko stanične
membrane. Klinička manifestacija bolesti uključuje široku paletu znakova i simptoma od strane
respiratornog, gastrointestinalnog, reproduktivnog i endokrinog sustava. Iako sama bolest ne
predstavlja veliki dijagnostički izazov, zbog progresivne prirode bolesti od krucijalne je važnosti
na vrijeme pomisliti i testirati one sa kliničkom sumnjom. Dugi niz godina osnova liječenja bila je
simptomatska terapija kojom se pokušalo maksimalno usporiti progresija bolesti, olakšati
simptome oboljelima te osigurati što kvalitetniji život s bolešću. Uvođenje CFTR modulatora u
terapiju CF označilo je prekretnicu u liječenju osoba s CF-om. Iako CFTR modulatori nisu
etiološka terapija njihovim uvođenjem došlo je do olakšanja simptoma, produljenja životnog
vijeka i povišenja kvalitete života za 90% pacijenata kojima su dostupni. Napredak u terapiji
donosi nove terapijske izazove, poglavito po pitanju liječenja kroničnih bolesti odrasle dobi,
prevencije i liječenja malignih tvorbi te trudnoće. Medikamentozna terapija CF idealan je primjer
polifarmacije koja je često imperativ u skrbi za pacijente s kroničnim progresivnim bolestima.
Polifarmacija sa sobom nosi rizik od povećanih interakcija među lijekovima te smanjene
adherencije. Unutar CF centra koji se skrbi o oboljelima od CF na određenom području djeluje
multidisciplinarni tim sastavljen od niza liječnika, pomoćnog medicinskog osoblja, fizioterapeuta
i niza drugih stručnjaka posebno educiranih za rad sa osobama s CF-om. |
| Abstract (english) | Cystic fibrosis (CF) is an inherited multisystem disease with an autosomal recessive pattern of
inheritance, whose treatment in the last decade is undeniable proof of the progress of medicine and
science. It is estimated that approximately 100,000 people worldwide suffer from CF. It arises as
a result of a mutation in the gene that encodes the CFTR protein, which functions as a
transmembrane channel responsible for the transport of primarily chloride ions across the cell
membrane. The clinical manifestation of the disease includes a wide range of signs and symptoms
affecting the respiratory, gastrointestinal, reproductive, and endocrine systems. Although the
disease itself does not represent a major diagnostic challenge, due to its progressive nature, it is
crucial to suspect of it and test those with clinical suspicion in a timely manner. For many years,
the basis of treatment was symptomatic therapy, which aimed to slow the progression of the disease
as much as possible, alleviate symptoms for patients, and ensure the best possible quality of life
with the disease. The introduction of CFTR modulators into CF therapy marked a turning point in
the treatment of people with CF. Although CFTR modulators are not an etiological therapy, their
introduction has led to symptom relief, extended life expectancy, and improved quality of life for
90% of patients who have access to them. Progress in therapy brings new therapeutic challenges,
particularly concerning the treatment of chronic adult diseases, prevention and treatment of
malignancies, and pregnancy. Drug therapy for CF is an ideal example of polypharmacy, which is
often imperative in the care of patients with chronic progressive diseases. Polypharmacy carries
the risk of increased drug interactions and reduced adherence. Within CF centers dedicated to
caring for CF patients in a specific area, there is a multidisciplinary team composed of various
doctors, nursing staff, physiotherapists, and other specialists specially trained to work with people
with CF. |
