Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task

• Published in: Diagnostics (Basel) Vol. 14; no. 7; p. 763
• Main Authors: Anton-Păduraru, Dana-Teodora, Azoicăi, Alice Nicoleta, Trofin, Felicia, Mîndru, Dana Elena, Murgu, Alina Mariela, Bocec, Ana Simona, Iliescu Halițchi, Codruța Olimpiada, Ciongradi, Carmen Iulia, Sȃrbu, Ioan, Iliescu, Maria Liliana
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01-04-2024
• Subjects: 21st century; children; Cystic fibrosis; Development and progression; diagnostic; Fludrocortisone; genetic; Genetic aspects; Genetic counseling; Genetic testing; Health aspects; Medical genetics; Methicillin; Mutation; neonatal screening; Nutritional status; Patients; Staphylococcus infections; sweat test; Romania; genetic; diagnostic; neonatal screening; children; sweat test; cystic fibrosis
• ISSN: 2075-4418; 2075-4418
• DOI: 10.3390/diagnostics14070763

Cystic fibrosis (CF) is a chronic and potentially life-threatening condition, wherein timely diagnosis assumes paramount significance for the prompt initiation of therapeutic interventions, thereby ameliorating pulmonary function, addressing nutritional deficits, averting complications, mitigating morbidity, and ultimately enhancing the quality of life and extending longevity. This review aims to amalgamate existing knowledge to provide a comprehensive appraisal of contemporary diagnostic modalities pertinent to CF in the 21st century. Deliberations encompass discrete delineations of each diagnostic modality and the elucidation of potential diagnostic quandaries encountered in select instances, as well as the delineation of genotype-phenotype correlations germane to genetic counseling endeavors. The synthesis underscores that, notwithstanding the availability and strides in diagnostic methodologies, including genetic assays, the sweat test (ST) retains its position as the preeminent diagnostic standard for CF, serving as a robust surrogate for CFTR functionality. Prospective clinical investigations in the realm of CF should be orchestrated with the objective of discerning novel diagnostic modalities endowed with heightened specificity and sensitivity.