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Cystic Fibrosis: Clinical Manifestations and Treatment
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Cystic Fibrosis: Clinical Manifestations and Treatment

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

Deadline for manuscript submissions: 25 August 2025 | Viewed by 5358

Special Issue Editors

Prof. Dr. Laura Trandafir

E-Mail Website
Guest Editor
Mother and Child Department, University of Medicine and Pharmacy Grigore T. Popa, Iasi, Romania
Interests: cystic fibrosis; obesity; metabolic syndrome; coeliac disease; malabsorption syndromes
Special Issues, Collections and Topics in MDPI journals
Dr. Lǎcrǎmioara Ionela Butnariu

E-Mail Website
Guest Editor
Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania
Interests: medical genetics; congenital anomalies; chronic kidney disease; nephrogenetics and kidney genomics; cardiogenetics; neurogenetics; vascular congenital anomalies; reproduction genetic disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Over the last few decades, significant progress has been made in medical innovations related to cystic fibrosis (CF), a chronic and life-threatening genetic disorder that affects both the digestive and respiratory systems. Although CF is a monogenic disease, people with the same pathogenic mutation may have a variable phenotype due to the intervention of modifier genes or environmental factors. The research on modifier genes opens up new perspectives, both in terms of the diagnosis and prognosis of the disease as well as therapeutic interventions.

Following the introduction of screening programs, the incidence of the disease has been more accurately documented, enabling healthcare providers to initiate treatment and management strategies promptly, ultimately improving the quality of life for individuals with CF. Moreover, new treatments such as CFTR (cystic fibrosis transmembrane conductance regulator) modulators have revolutionized the treatment of CF by targeting the underlying cause of the disease.

However, treating a child with CF still presents a myriad of challenges due to the complex and progressive nature of the disease. Although the majority of the CF population is benefiting from the CFTR modulators, there are still people with CF without a treatment program targeting their specific genetic mutations. Since monitoring the disease is crucial for achieving positive outcomes, it is essential to properly assess and manage new techniques such as liver elastography and continuous glycemia monitoring. In this context, personalized medicine approaches hold promise for further advancements in the management of CF in children, ultimately leading to better outcomes and improved life expectancy for individuals with this condition.

We invite researchers, clinicians, and other experts in the field to contribute their insights and expertise to this Special Issue. We are looking for reviews and original articles reflecting the latest progress in the field of clinical and molecular diagnostics, as well as novel therapeutic approaches. Topics include, but are not limited to, the following:

  • Clinical manifestations and complications of cystic fibrosis in different organ systems;
  • Novel diagnostic tools and biomarkers for the early detection of cystic fibrosis;
  • Pharmacological and non-pharmacological treatment strategies for cystic fibrosis;
  • Nutritional care in children with cystic fibrosis;
  • Emerging therapies and personalized medicine approaches for cystic fibrosis management.

We hope that by sharing knowledge and collaborating on new ideas, we can work together to enhance our understanding of CF in children and ultimately improve the care and outcomes for these young patients.

Prof. Dr. Laura Trandafir
Dr. Lǎcrǎmioara Ionela Butnariu
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • cystic fibrosis
  • modifier genes
  • CFTR modulator
  • CF newborn screening
  • CF nutrition
  • CF complications

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Published Papers (6 papers)

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Research

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18 pages, 670 KiB  
Article
Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis
by Mădălina Andreea Donos, Lăcrămioara Ionela Butnariu, Dana Teodora Anton Păduraru, Alina Mariela Murgu, Cristina Rusu, Monica Cristina Pânzaru, Roxana Popescu, Elena Țarcă, Elena Cojocaru, Gabriela Ghiga and Laura Mihaela Trandafir
J. Clin. Med. 2025, 14(15), 5362; https://doi.org/10.3390/jcm14155362 - 29 Jul 2025
Viewed by 292
Abstract
Background/Objectives: Cystic fibrosis (CF) is a rare autosomal recessive genetic disease that has a progressive and multisystemic course. The spectrum and frequency of mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) vary both in European countries and in [...] Read more.
Background/Objectives: Cystic fibrosis (CF) is a rare autosomal recessive genetic disease that has a progressive and multisystemic course. The spectrum and frequency of mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) vary both in European countries and in other geographical regions. The aim of our retrospective study was to present the genetic variants identified in a group of 48 CF patients from the Moldova region (Romania), as well as to establish genotype–phenotype correlations. Methods: Genetic testing was initially performed for 38 CFTR mutations, and in heterozygous patients or those in whom no mutation was detected, CFTR gene sequencing (NGS) was performed. Results: The compound heterozygous genotype was identified in 26 (54.16%) of the patients (with one of the alleles being F508del), while 22 (45.83%) patients had the homozygous F508del genotype. The F508del variant was the most frequent (69.79%), followed by G542X (6.25%, 6/96). Several new variants were also identified that had not been reported in other studies from Romania (R1158X, K598*, R347H, c.2589_2599del, R496H, and CFTRdele2). Phenotypic manifestations in patients with CFTR class I, II, III and VII variants (homozygous and compound heterozygous) were more severe compared to those in patients with CFTR class IV, V and VI mutations, with the data obtained being consistent with those in the literature. Respiratory tract involvement was present in 77.08% of the patients, being more frequent in patients with the compound heterozygous genotype compared to the homozygous F508del genotype. Most patients had exocrine pancreatic insufficiency (EPI) (85.41%). Gastrointestinal manifestations included hepatocytolysis (66.66%) and biliary cirrhosis (0.41%). Meconium ileus was detected in 18.75% of patients, all with a compound heterozygous genotype. Conclusions: We compared the results obtained with data from the literature and correlated the detected CFTR variant (genotype) with the phenotypic manifestations, highlighting certain particularities present in some patients. Genetic testing allows for early diagnosis and adapted management, including personalized treatment for each patient. Identification of novel unclassified CFTR variants still remains a challenge for clinicians. NGS-based screening of heterozygous healthy carriers is important for both genetic counseling and prenatal diagnosis. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Clinical Manifestations and Treatment)
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17 pages, 653 KiB  
Article
Uncomplicated SARS-CoV-2 Infections with Preserved Lung Function in Pediatric Patients with Cystic Fibrosis: A Three-Year Single-Centre Experience
by Justyna Sieber, Nicole Martin, Klara Schmidthaler, René Gaupmann, Eleonora Dehlink, Alexandra Graf, Zsolt Szépfalusi and Saskia Gruber
J. Clin. Med. 2025, 14(9), 2979; https://doi.org/10.3390/jcm14092979 - 25 Apr 2025
Viewed by 466
Abstract
Background/Objectives: Patients with chronic lung diseases, such as cystic fibrosis, were considered a risk group for a severe course of coronavirus disease 2019 at the beginning of the pandemic. However, mounting evidence suggests that this group may not face an elevated risk for [...] Read more.
Background/Objectives: Patients with chronic lung diseases, such as cystic fibrosis, were considered a risk group for a severe course of coronavirus disease 2019 at the beginning of the pandemic. However, mounting evidence suggests that this group may not face an elevated risk for a severe SARS-CoV-2 infection. Methods: Here, we present data on the incidence and clinical course of SARS-CoV-2 infections in a single pediatric CF centre in Austria. Clinical variables were analyzed for their potential impact on disease acquisition and severity. A total of 135 young people with CF were assessed from February 2020 until December 2022. Results: Eighty-four patients were infected with SARS-CoV-2, out of which nine patients reported re-infection, resulting in 93 SARS-CoV-2 infections. Most infections, 76/93 (82%), occurred during the period of omicron variant predominance. Higher body mass index and respiratory colonization with Haemophilus influenzae before the beginning of the pandemic were significantly associated with the risk of acquiring SARS-CoV-2 infection. All patients had an uncomplicated COVID-19 course, regardless of the SARS-CoV-2 variant and COVID-19 vaccine status at infection. The most frequent symptoms were rhinitis (53%), fatigue (49%), cephalea (43%), and fever (38%). Neither oxygen therapy nor hospitalization were needed for any of the patients. Lung function parameters (FEV1, FVC, FEF50, LCI), both in the early post-viral as well as late post-viral stages, were not significantly impacted by SARS-CoV-2 infections. No long-term post-COVID-19 effects were reported. Conclusions: Our single-centre experience suggests that the course of SARS-CoV-2 infections in children and adolescents with CF is primarily mild and uncomplicated. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Clinical Manifestations and Treatment)
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9 pages, 834 KiB  
Article
Phenotypic Evaluation of Rare Cystic Fibrosis Transmembrane Conductance Regulator Mutation Combinations in People with Cystic Fibrosis in Queensland, Australia
by Ieuan Edward Shepherd Evans, Michelle Wood, Vanessa Moore and David William Reid
J. Clin. Med. 2024, 13(20), 6210; https://doi.org/10.3390/jcm13206210 - 18 Oct 2024
Viewed by 1413
Abstract
Background: Cystic fibrosis (CF) is a multisystem disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the distribution of CFTR mutation profiles in sub-tropical Queensland, Australia, and characterise the phenotypes associated with ‘rare’ CFTR mutation combinations. Methods: [...] Read more.
Background: Cystic fibrosis (CF) is a multisystem disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the distribution of CFTR mutation profiles in sub-tropical Queensland, Australia, and characterise the phenotypes associated with ‘rare’ CFTR mutation combinations. Methods: We conducted a retrospective observational study to analyse the CFTR mutation profiles of 322 people with CF (pwCF) under the care of a large adult CF centre in Queensland, Australia. Molecular pathology results were available for all identifiable CFTR mutations. The CFTR2 database was utilised to characterise the less common CFTR mutations to define mutation classes and explore associated phenotypic sequelae. Results: In total, eighty-seven different genotypes were identified within our CF cohort, with the most abundant mutation being the F508del mutation, 298/322 (92.5%). Thirty-six pwCF with CFTR mutations are considered to have ‘rare’ CFTR mutations, and eleven with previously undefined phenotypes. For these eleven pwCF, late diagnosis in adulthood was confirmed in 5/11 pwCF (45.5%) with CFTR modulator therapy only initiated in 5/11 (45.5%). Conclusions: The profile of more common CFTR genotypes within our cohort of adult pwCF living in Queensland, Australia, generally reflects the global predominance of F508del, G542X, G551D, N1303K, and R117H. The phenotypic heterogeneity of disease seen within the eleven pwCF in our cohort with previously undefined CFTR genotypes highlights that rare mutations can also be associated with severe disease and continue to be at risk of delayed diagnosis. Access to CFTR modulator therapies for this group of pwCF remains limited and should remain a research priority. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Clinical Manifestations and Treatment)
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9 pages, 777 KiB  
Article
CFTR Modulators Therapy Efficacy in Reducing Cystic Fibrosis (CF) Exacerbation and Improving Selected Spirometry Parameters: A Real-Life Study in a Single-Centre Polish Population
by Hanna M. Winiarska, Daria Springer, Filip Wojtaś, Ewa Wysocka and Szczepan Cofta
J. Clin. Med. 2024, 13(15), 4491; https://doi.org/10.3390/jcm13154491 - 31 Jul 2024
Viewed by 1674
Abstract
Background/Objectives: Cystic fibrosis is a genetically determined disease that significantly influences and shortens life. Treatment with CFTR modulators (CFTR-T) is a new hope for patients. It can change the predictive values of a poor prognosis (e.g., exacerbation rate and FEV1 value). The aim [...] Read more.
Background/Objectives: Cystic fibrosis is a genetically determined disease that significantly influences and shortens life. Treatment with CFTR modulators (CFTR-T) is a new hope for patients. It can change the predictive values of a poor prognosis (e.g., exacerbation rate and FEV1 value). The aim of the study was to analyse exacerbation incidence and spirometry data before and after one year (+/− 2 weeks) of CFTR-T in 85 CF patients at the CF Centre in Poznań. To our knowledge, this is the first analysis of CFTR-T efficiency in the Central–Eastern Europe population. Methods: We retrospectively analysed the spirometry and exacerbation data of 85 CF adult patients (both men and women), who in the middle of 2022 began treatment with CFTR modulators. Results: The one-year ratio of hospitalisation caused by severe exacerbations lowered from 1.25 to 0.21 per patient per year. We also saw a 66% decline in ambulatory exacerbations. The median FEV1% increased by 9.60% in absolute values and by 460 mL. Even in the group with very severe obstruction (FEV1 < 35%), there was an increase in median FEV1% of 5.9 in absolute values. We also proved the increase in FVC% (median 17.10% in absolute value and 600 mL) in the study group. Conclusions: After one year of treatment, an impressive improvement was observed in two important predictive values of poor prognosis: exacerbation rate and FEV1 values. Further observation is needed to determine how long the improvement will be present and its influence on quality of life and life expectancy. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Clinical Manifestations and Treatment)
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Review

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21 pages, 583 KiB  
Review
Diagnosis and Emerging Biomarkers of Cystic Fibrosis-Related Kidney Disease (CFKD)
by Hayrettin Yavuz, Manish Kumar, Himanshu Ballav Goswami, Uta Erdbrügger, William Thomas Harris, Sladjana Skopelja-Gardner, Martha Graber and Agnieszka Swiatecka-Urban
J. Clin. Med. 2025, 14(15), 5585; https://doi.org/10.3390/jcm14155585 - 7 Aug 2025
Viewed by 272
Abstract
As people with cystic fibrosis (PwCF) live longer, kidney disease is emerging as a significant comorbidity that is increasingly linked to cardiovascular complications and progression to end-stage kidney disease. In our recent review, we proposed the unifying term CF-related kidney disease (CFKD) to [...] Read more.
As people with cystic fibrosis (PwCF) live longer, kidney disease is emerging as a significant comorbidity that is increasingly linked to cardiovascular complications and progression to end-stage kidney disease. In our recent review, we proposed the unifying term CF-related kidney disease (CFKD) to encompass the spectrum of kidney dysfunction observed in this population. Early detection of kidney injury is critical for improving long-term outcomes, yet remains challenging due to the limited sensitivity of conventional laboratory tests, particularly in individuals with altered muscle mass and unique CF pathophysiology. Emerging approaches, including novel blood and urinary biomarkers, urinary extracellular vesicles, and genetic risk profiling, offer promising avenues for identifying subclinical kidney damage. When integrated with machine learning algorithms, these tools may enable the development of personalized risk stratification models and targeted therapeutic strategies. This precision medicine approach has the potential to transform kidney disease management in PwCF, shifting care from reactive treatment of late-stage disease to proactive monitoring and early intervention. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Clinical Manifestations and Treatment)
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10 pages, 227 KiB  
Review
Impacts and New Challenges with Highly Effective Modulator Therapies in Younger Children with Cystic Fibrosis
by Kanchana Uyangoda, Charlotte Dawson, Nikesh Gudka and Rossa Brugha
J. Clin. Med. 2025, 14(13), 4625; https://doi.org/10.3390/jcm14134625 - 30 Jun 2025
Viewed by 447
Abstract
Highly effective modulator therapy (HEMT) has been available for adults and young adults aged 12 years and over with cystic fibrosis for approximately 5 years, with real-world evidence (RWE) emerging that confirms the significant impacts of these novel medications in older patient groups. [...] Read more.
Highly effective modulator therapy (HEMT) has been available for adults and young adults aged 12 years and over with cystic fibrosis for approximately 5 years, with real-world evidence (RWE) emerging that confirms the significant impacts of these novel medications in older patient groups. As licensing has been extended to younger children (2 years and above in some jurisdictions), we summarize the clinical experience of these medications in pre-school and school-aged children and compare how changes in the objective markers of the disease can be elucidated in younger children. We also discuss the different incidences and severity of side effect profiles, the efforts to mediate these in younger children, and the particular challenges in introducing novel medications into pediatrics. We speculate on the use of HEMT in younger infants and its potential use in prenatal care. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Clinical Manifestations and Treatment)
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