Cystic fibrosis management in pediatric population-from clinical features to personalized therapy.

Autor:	Azoicai AN; Pediatrics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Lupu A; Pediatrics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Trandafir LM; Pediatrics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Alexoae MM; Pediatrics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Alecsa M; Pediatrics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Starcea IM; Pediatrics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Cuciureanu M; Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Knieling A; Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Salaru DL; Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Hanganu E; Department of Biomedical Sciences, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Mocanu A; Pediatrics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Lupu VV; Pediatrics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania., Ioniuc I; Pediatrics, 'Grigore T. Popa' University of Medicine and Pharmacy, Iasi, Romania.
Jazyk:	angličtina
Zdroj:	Frontiers in pediatrics [Front Pediatr] 2024 May 10; Vol. 12, pp. 1393193. Date of Electronic Publication: 2024 May 10 (Print Publication: 2024).
DOI:	10.3389/fped.2024.1393193
Abstrakt:	Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). In 1949, it's been identified as a monogenic disease and was thought to primarily affect individuals of Northern European descent. It was the most prevalent autosomal recessive disease that shortens life. With the availability of multiple testing methodologies nowadays, there is a chance to create novel and enhanced treatment options. Even in the absence of a high sweat chloride test (SCT) result, the discovery of two causal mutations is diagnostic for cystic fibrosis (CF). For a CF diagnosis, however, at least two positive E sweat chloride tests are still required. In order to achieve early and active intervention to manage cystic fibrosis (CF) and its comorbidities, treatment regimens for pediatric patients should be evaluated, improved, and closely monitored. New developments in the treatment of cystic fibrosis (CF) have led to the development of medications derived from molecules that target the pathogenetic pathway of the illness. These options are very efficient and allow pediatric patients to receive individualized care. However, in order to better direct patient care and enhance patient outcomes, it is crucial to research uncommon CF mutations, which can provide crucial information about the prognosis of the disease and the relationships between genotype and phenotype. To ensure the success of creating novel, safer, and more efficient treatment approaches, a deeper understanding of the pathogeny of the illness is required. In the age of customized medicine, genetic research will be essential to improving patient care and quality of life for those with uncommon mutations. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (© 2024 Azoicai, Lupu, Trandafir, Alexoae, Alecsa, Starcea, Cuciureanu, Knieling, Salaru, Hanganu, Mocanu, Lupu and Ioniuc.)
Databáze:	MEDLINE
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