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Cystic Fibrosis: Diagnosis and Treatment

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Respiratory Medicine".

Deadline for manuscript submissions: 20 February 2026 | Viewed by 13592

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Dr. Corrado Tagliati

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Radiologia AST Pesaro Urbino, 61121 Pesaro, Italy
Interests: cystic fibrosis; ultrasound; CT
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Gian Marco Giuseppetti

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Department of Radiological Sciences, Azienda Ospedaliero Universitaria Ospedali Riuniti, Università Politecnica delle Marche, 60121 Ancona, Italy
Interests: breast imaging; ultrasound; CT

Special Issue Information

Dear Colleagues,

You know better than us that cystic fibrosis is an important genetic disease caused by a myriad of CFTR gene mutations and that the sweat chloride test, genetic testing, prenatal/preconception testing, and newborn screening are different ways to obtain a diagnosis. In recent years, novel drugs have dramatically changed the symptoms and, therefore, the lives of many cystic fibrosis patients who are allowed to take them. Moreover, the median age of treated patients is reducing over time thanks to new legislations. What's more, a lot of patients without F508del will hope to be allowed to take these new medications.

In this Special Issue, we welcome original articles, reviews, brief reports about the diagnosis, treatment, and management of cystic fibrosis.

Dr. Corrado Tagliati
Prof. Dr. Gian Marco Giuseppetti
Guest Editors

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Keywords

cystic fibrosis
diagnosis
treatment
management

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Published Papers (6 papers)

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Research

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21 pages, 490 KB

Open AccessArticle

Comprehensive Evaluation of Elexacaftor/Tezacaftor/Ivacaftor in Paediatric Cystic Fibrosis: Nutritional, Pulmonary, and Quality-of-Life Outcomes

by Katarzyna Walicka-Serzysko, Magdalena Postek, Monika Mielus, Urszula Borawska-Kowalczyk, Justyna Milczewska, Katarzyna Zybert, Łukasz Wozniacki, Anna Wołkowicz and Dorota Sands

J. Clin. Med. 2025, 14(22), 7969; https://doi.org/10.3390/jcm14227969 - 10 Nov 2025

Viewed by 427

Abstract

Background/Objectives: Cystic fibrosis transmembrane conductance regulator modulator (mCFTR) therapy has been proven efficacious in controlled clinical trials for individuals with cystic fibrosis. This post-approval retrospective study aimed to determine the comprehensive effects of elexacaftor/tezacaftor/ivacaftor (ETI) on nutritional status, the respiratory system and quality of life over 12 months of clinical use in paediatric patients treatment-naïve to mCFTR. Methods: A retrospective analysis of records of CF adolescents on ETI therapy was conducted. The selected parameters of anthropometric measurements, body composition assessed by BIA, spirometry, and multiple breath nitrogen washout (MBNW) to measure lung clearance index (LCI), were evaluated before therapy and at 3 and 12 months after treatment initiation. Additionally, children completed the Cystic Fibrosis Questionnaire-Revised (CFQ-R). Results: Over 18 months, data from 58 patients (mean age 14.34 ± 1.70, 50% female; 43% homozygous F508del) on ETI were collected. Body weight increased significantly over 12 months, with a mean gain of 3.33 kg at 3 months (p < 0.001) and 7.10 kg at 12 months (p < 0.001), alongside improvements in BMI z-score, fat-free mass, and fat mass. Significant changes (p < 0.001) were also observed after 3 and 12 months in ppFEV₁ (8.91 ± 8.23; 9.67 ± 8.77) and ppFVC (4.46 ± 5.24; 4.61 ± 5.70), with a decrease in LCI (−1.62 ± 2.15; −1.68 ± 1.89). The CFQ-R Respiratory score increased by 11.75 points and correlated with most of the pulmonary and nutritional parameters. Conclusions: In real-world settings, clinical improvement during ETI therapy reflects a comprehensive impact on nutritional status, body composition, pulmonary function, and quality of life for adolescents with CF. Full article

(This article belongs to the Special Issue Cystic Fibrosis: Diagnosis and Treatment)

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11 pages, 1250 KB

Open AccessArticle

Height Velocity in Pediatric Cystic Fibrosis Under Triple CFTR Modulator Therapy: A Real-Life Monocentric Experience

by Alessandra Boni, Francesco d’Aniello, Grazia Ubertini, Marco Cappa, Fabiana Ciciriello, Fabio Majo, Luca Cristiani, Federico Alghisi, Enza Montemitro, Sergio Bella, Matteo De Marchis, Renato Cutrera and Alessandro G. Fiocchi

J. Clin. Med. 2025, 14(15), 5259; https://doi.org/10.3390/jcm14155259 - 25 Jul 2025

Cited by 1 | Viewed by 716

Abstract

Background/Objectives: Cystic fibrosis (CF) is a multi-system disorder characterized by chronic respiratory failure, malnutrition, and impaired growth. Achieving linear growth above the 50th percentile is associated with better pulmonary outcomes. Since October 2022, Elexacaftor/Tezacaftor/Ivacaftor (ETI) has been approved in Italy for children aged ≥6 years. However, data on its impact on height velocity (HV) remain lacking. This study aims to evaluate growth patterns by HV and explore differences according to the CFTR variant genotype. Methods: We conducted a prospective single-center study at the CF Unit of Bambino Gesù Children’s Hospital involving 24 children aged 6–11 years eligible for ETI treatment. Baseline assessments included height, weight, body mass index (BMI), bone mineral density (BMD), body composition (via bioelectrical impedance analysis, BIA), and muscle strength (one-minute sit-to-stand test (1STST)). Height, weight, HV, and BMI standard deviation scores (SDS) were calculated for the 6 months before and after ETI initiation. Results: The mean age of the cohort was 8.7 ± 1.9 years (F/M: 12/12), with most patients naïve to CFTR modulators. A significant increase in HV was observed post-ETI: from 4.2 ± 2.0 cm/year (−1.96 ± 2.4 SDS) in the 6 months before treatment to 7.1 ± 3.0 cm/year (+1.5 ± 3.7 SDS) after treatment initiation (p < 0.0001). Patients with F508del/minimal function (F/MF) genotypes (n = 11) showed significantly greater HV compared to those with F508del/F508del (F/F, n = 5) and F508del/residual function (F/RF, n = 8) genotypes (p < 0.0001). No significant differences were observed among genetic groups in baseline BMD or lean mass. Conclusions: ETI treatment significantly and rapidly improves HV in children with CF, particularly in those with F/MF genotypes. These findings underscore the role of CFTR modulator therapy in promoting linear growth, a key indicator of health in pediatric CF populations. Full article

(This article belongs to the Special Issue Cystic Fibrosis: Diagnosis and Treatment)

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14 pages, 674 KB

Open AccessArticle

Exploration of Olfaction and ChiPSO in Pediatric Cystic Fibrosis

by Tiana M. Saak, Jeremy P. Tervo, Brandon M. Moore, Alicia S. Wang, Emily DiMango, Hossein Sadeghi, David A. Gudis and Jonathan B. Overdevest

J. Clin. Med. 2025, 14(8), 2583; https://doi.org/10.3390/jcm14082583 - 9 Apr 2025

Viewed by 852

Abstract

Background/Objectives: Olfactory dysfunction (OD) is a common symptom among people with cystic fibrosis (PwCF) and contributes to environmental safety concerns, nutritional challenges, and an overall diminished quality of life. OD is perceived to progress along the lifespan in PwCF, often due to worsening sinonasal disease. Among children with cystic fibrosis (CwCF), OD is poorly characterized as limited resources and tolerance contribute to challenges in psychophysical olfactory evaluation among pediatric populations. The Children’s Personal Significance of Olfaction (ChiPSO) questionnaire was recently proposed as a tool to assess olfaction and the importance of olfactory stimulation among children. This pilot study aimed to evaluate the utility of ChiPSO among a cohort of ethnically diverse CwCF. Methods: Individuals aged 7–17 with physician-diagnosed CF were asked to complete questionnaires, including ChiPSO and the brief questionnaire on olfactory dysfunction (bQOD-NS), prior to undergoing psychophysical olfactory evaluation with the U-Sniff Identification test. Potential associations between questionnaires and olfactory performance, pulmonary function, and demographic characteristics were evaluated using Pearson and Spearman correlations, independent-sample t-tests, Wilcoxon rank sum tests, and multiple linear regression. Results: U-Sniff Identification score positively correlated with the overall ChiPSO total score [r(13) = 0.640, p = 0.010] and its environmental subdomain score [r(13) = 0.774, p < 0.001], though not with the food subdomain [r(13) = 0.450, p = 0.093], the social subdomain [r(13) = 0.343, p = 0.2], or bQOD-NS score [r(11) = −0.125, p = 0.7]. Hispanic ethnicity is associated with ChiPSO (p = 0.041). Conclusions: In this preliminary study, olfactory importance increases with olfactory function among an ethnically diverse sample of CwCF, with a preferential influence of olfactory function on personal importance of environmental olfactory information. While these results should be interpreted with limitations imposed by the pilot nature of our sample size, our pilot data highlights associations with early adolescent development of importance of olfaction that can be disrupted in the setting of progressive disease among CwCF. Full article

(This article belongs to the Special Issue Cystic Fibrosis: Diagnosis and Treatment)

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Review

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20 pages, 285 KB

Open AccessReview

Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Cystic Fibrosis: A Review of Registry-Based Evidence

by Donatello Salvatore and Angela Pepe

J. Clin. Med. 2025, 14(11), 3978; https://doi.org/10.3390/jcm14113978 - 5 Jun 2025

Cited by 2 | Viewed by 4111

Abstract

Fibrosis transmembrane conductance regulator (CFTR) modulators (CFTRms) have significantly improved outcomes in people with cystic fibrosis (CF). Real-world evidence, particularly from national and international CF registries, is essential to assess their long-term effectiveness and safety. We reviewed published studies using registry data to evaluate the impact of CFTRms on clinical outcomes in individuals with CF. A narrative review of studies published between 2015 and 2025 was conducted, focusing on registry-based evaluations of ivacaftor, lumacaftor/ivacaftor, tezacaftor/ivacaftor, and elexacaftor/tezacaftor/ivacaftor. Primary outcomes included lung function, pulmonary exacerbations, nutritional status, and survival. Fifty-seven registry-based studies confirmed the benefits of CFTRms across diverse CF populations. Ivacaftor has demonstrated sustained improvements in forced expiratory volume in one second (FEV₁), reduced exacerbations, and improved nutritional outcomes. Lumacaftor/ivacaftor and tezacaftor/ivacaftor have shown modest benefits, especially in homozygous F508del patients. The introduction of elexacaftor/tezacaftor/ivacaftor has led to unprecedented improvements in lung function and quality of life, along with a reduced need for lung transplantation. Methodological heterogeneity and incomplete data remain challenges. Registry data provide essential, complementary evidence to clinical trials and support the effectiveness of CFTRms in routine care. Continued efforts are needed to harmonize registry methodologies and outcome measures. Full article

(This article belongs to the Special Issue Cystic Fibrosis: Diagnosis and Treatment)

18 pages, 1422 KB

Open AccessReview

Clinical Disorders in Cystic Fibrosis That Affect Emergency Procedures—A Case Report and Review

by Sylwia Jarzynka, Mateusz Dobrosz, Sebastian Jaworski, Kamil Jóźwicki, Sebastian Wierzba, Olga Barbarska and Anna Minkiewicz-Zochniak

J. Clin. Med. 2025, 14(9), 3187; https://doi.org/10.3390/jcm14093187 - 5 May 2025

Viewed by 2696

Abstract

Cystic fibrosis (CF) is a multisystemic disease caused by a genetic defect, namely a mutation in the CFTR gene, that results in the production of an abnormal protein that regulates the flow of chloride ions through epithelial cells, leading to the dehydration of secreted mucus and changes in its biological properties. Chronic inflammation and recurrent respiratory infections progressively damage lung tissue, leading to respiratory and cardiorespiratory failure. This study aims to present a clinical case and explore the clinical changes in CF that may influence the provision of pre-hospital first aid. The study presents a case report of a 23-year-old CF patient undergoing evaluation for lung transplantation, infected with Pseudomonas aeruginosa and Staphylococcus aureus with the MSSA phenotype, and in a severe condition due to infectious exacerbation. Despite antibiotic treatment, the patient’s condition deteriorated, leading to respiratory failure and cardiac arrest. Emergency measures were taken to maintain airway patency—the patient was sedated, intubated, and connected to a ventilator. CF involves systemic complications that, during exacerbations, may require urgent interventions. Cystic fibrosis is associated with multiple systemic complications, some of which may, during exacerbations, require emergency medical interventions. Providing care to this patient group involves specific procedures addressing the consequences of the underlying disease. Due to increasing survival rates and the emergence of new phenotypes, there is a need for the continuous education of medical personnel, including emergency responders, regarding the management of genetically determined diseases. This study underscores the importance of recognizing CF’s complex nature and adapting emergency care accordingly to ensure timely and effective intervention in life-threatening situations. Full article

(This article belongs to the Special Issue Cystic Fibrosis: Diagnosis and Treatment)

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19 pages, 325 KB

Open AccessReview

Treatment of Psychological Symptoms in Patients with Cystic Fibrosis

by Giovanna Campagna, Corrado Tagliati, Gian Marco Giuseppetti and Pietro Ripani

J. Clin. Med. 2024, 13(19), 5806; https://doi.org/10.3390/jcm13195806 - 28 Sep 2024

Cited by 4 | Viewed by 3707

Abstract

The aim of this article is to identify and illustrate the most used psychological techniques in the field of cystic fibrosis (CF) and to help clinicians choose the most appropriate strategy among various possibilities. The disease and its medical treatments can be difficult to tolerate and can cause anxiety about health status or feelings of hopelessness and stress. The prevalence of depression and anxiety is 2.3 times higher in adults with CF than in community samples. A strong correlation has been identified between elevated psychological distress and unfavorable health outcomes, including, among others, impaired lung function, reduced BMI, an increased incidence of pulmonary exacerbations, and an elevated risk of transplantation. The use of psychological interventions is useful in addressing these common distresses in CF patients. Aware of the necessity of identifying efficacious interventions for all levels of depression and anxiety in CF patients, this study presents an overview of the research on psychological interventions for patients with CF, in order to complement the treatments suggested by the international guidelines on mental health in CF cases. In fact, the aim of this study is to conduct a review and quantitative synthesis of the psychological intervention techniques that are currently available for individuals with CF. Full article

(This article belongs to the Special Issue Cystic Fibrosis: Diagnosis and Treatment)

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