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Cystic Fibrosis: Genotype, Clinical Features, and Current Comorbidities
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Cystic Fibrosis: Genotype, Clinical Features, and Current Comorbidities

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

Deadline for manuscript submissions: closed (30 June 2022) | Viewed by 17385

Special Issue Editors

Dr. Vito Terlizzi

E-Mail Website
Guest Editor
Cystic Fibrosis Regional Reference Center, Department of Paediatric Medicine, Anna Meyer Children's University, Florence, Italy
Interests: cystic fibrosis; CFTR; genetic counselling; pancreatitis; CFTR modulators; newborn screening
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Stefano Stagi

E-Mail Website
Guest Editor
Department of Health Sciences, Anna Meyer Children's University Hospital, Florence, Italy
Interests: cystic fibrosis; puberty disorders; thyroid diseases; growth disorders; auxoendocrinological rare diseases

Special Issue Information

Dear Colleagues,

Cystic fibrosis (CF) is a multisystem disease caused by mutations causing deficient or dysfunctional CF transmembrane conductance regulator (CFTR) protein. Over 2000 variants in the CFTR gene have been identified, and greater than 300 are known to cause disease.

The CF phenotype is characterised by progressive lung disease, exocrine pancreatic insufficiency associated with nutrient malabsorption contributing to undernutrition, impaired growth, hepatobiliary manifestations, and male infertility. On the other hand, the diagnosis of CFTR-related disorder has been defined as a mono-symptomatic clinical entity, such as in the occurrence of congenital bilateral absence of the vas deferens (CBAVD), pancreatitis or bronchiectasis at computed tomography scan, associated with CFTR dysfunction that does not fulfil the diagnostic criteria for CF.

Over time, CFTR modulator therapies, targeting the basic molecular defect in CF, have been developed for specific CFTR mutations. They are associated with improved health outcomes and substantial improvement in the survival of people with CF.

In this Special Issue, we would like to focus on all clinical, genetic, molecular, and therapeutic aspects related to this disease, in order to disseminate and update knowledge.

Any contribution in the field of this topic is welcome. 

Dr. Vito Terlizzi
Prof. Dr. Stefano Stagi
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
  • Clinical features
  • Epidemiology
  • Comorbidities
  • CFTR-related disorders
  • Lung transplantation
  • Cystic fibrosis microbiology
  • Genotype–phenotype correlation and modifier genes
  • CFTR modulators
  • CFTR functional assays
  • Personalized medicine

Published Papers (5 papers)

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Research

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11 pages, 1120 KiB  
Article
Cystic Fibrosis Patients with F508del/Minimal Function Genotype: Laboratory and Nutritional Evaluations after One Year of Elexacaftor/Tezacaftor/Ivacaftor Treatment
by Vincenzo Carnovale, Filippo Scialò, Monica Gelzo, Paola Iacotucci, Felice Amato, Federica Zarrilli, Assunta Celardo, Giuseppe Castaldo and Gaetano Corso
J. Clin. Med. 2022, 11(23), 6900; https://doi.org/10.3390/jcm11236900 - 22 Nov 2022
Cited by 13 | Viewed by 1539
Abstract
The last ten years have been characterized by an enormous step forward in the therapy and management of patients with Cystic Fibrosis (CF), thanks to the development and combination of Cystic Fibrosis Transmembrane Receptor (CFTR) correctors and potentiators. Specifically, the last [...] Read more.
The last ten years have been characterized by an enormous step forward in the therapy and management of patients with Cystic Fibrosis (CF), thanks to the development and combination of Cystic Fibrosis Transmembrane Receptor (CFTR) correctors and potentiators. Specifically, the last approved triple combination elexacaftor/tezacaftor/ivacaftor has been demonstrated to improve lung function in CF patients with both homozygous Phe508del and Phe508del/minimal function genotypes. Here we have assessed the effect of elexacaftor/tezacaftor/ivacaftor in patients carrying the Phe508del/minimal function genotype (n = 20) after one year of treatments on liver function and nutrient absorption with a focus on lipid metabolism. We show that weight, BMI, and albumin significantly increase, suggesting a positive impact of the treatment on nutrient absorption. Furthermore, cholesterol levels as a biomarker of lipid metabolism increased significantly after one year of treatment. Most importantly, we suggest that these results were not dependent on the diet composition, possibly indicating that the drug improves the hepatic synthesis and secretion of proteins and cholesterol. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Genotype, Clinical Features, and Current Comorbidities)
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14 pages, 929 KiB  
Article
Impact of CFTR Modulators on Beta-Cell Function in Children and Young Adults with Cystic Fibrosis
by Claudia Piona, Enza Mozzillo, Antonella Tosco, Sonia Volpi, Francesco Maria Rosanio, Chiara Cimbalo, Adriana Franzese, Valeria Raia, Chiara Zusi, Federica Emiliani, Maria Linda Boselli, Maddalena Trombetta, Riccardo Crocina Bonadonna, Marco Cipolli and Claudio Maffeis
J. Clin. Med. 2022, 11(14), 4149; https://doi.org/10.3390/jcm11144149 - 17 Jul 2022
Cited by 12 | Viewed by 1627
Abstract
Background: To date, no consistent data are available on the possible impact of CFTR modulators on glucose metabolism. The aim of this study was to test the hypothesis that treatment with CFTR modulators is associated with an improvement in the key direct determinants [...] Read more.
Background: To date, no consistent data are available on the possible impact of CFTR modulators on glucose metabolism. The aim of this study was to test the hypothesis that treatment with CFTR modulators is associated with an improvement in the key direct determinants of glucose regulation in children and young adults affected by Cystic Fibrosis (CF). Methods: In this study, 21 CF patients aged 10–25 underwent oral glucose tolerance test (OGTT) before and after 12–18 months of treatment with Lumacaftor/Ivacaftor or Elexacaftor-Ivacaftor-Tezacaftor. β-cell function (i.e., first and second phase of insulin secretion measured as derivative and proportional control, respectively) and insulin clearance were estimated by OGTT mathematical modelling. Insulin sensitivity was estimated by the Oral Glucose Sensitivity Index (OGIS). The dynamic interplay between β-cell function, insulin clearance and insulin sensitivity was analysed by vector plots of glucose-stimulated insulin bioavailability vs. insulin sensitivity. Results: No changes in glucose tolerance occurred after either treatment, whereas a significant improvement in pulmonary function and chronic bacterial infection was observed. Beta cell function and insulin clearance did not change in both treatment groups. Insulin sensitivity worsened in the Lumacaftor/Ivacaftor group. The analysis of vector plots confirmed that glucose regulation was stable in both groups. Conclusions: Treatment of CF patients with CFTR modulators does not significantly ameliorate glucose homeostasis and/or any of its direct determinants. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Genotype, Clinical Features, and Current Comorbidities)
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Review

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18 pages, 1467 KiB  
Review
Auxological and Endocrinological Features in Children and Adolescents with Cystic Fibrosis
by Vittorio Ferrari, Vito Terlizzi and Stefano Stagi
J. Clin. Med. 2022, 11(14), 4041; https://doi.org/10.3390/jcm11144041 - 13 Jul 2022
Cited by 3 | Viewed by 1598
Abstract
Cystic fibrosis (CF) is a multisystem autosomal recessive disease caused by mutations that lead to deficient or dysfunctional CF transmembrane conductance regulator (CFTR) proteins. Patients typically present malnutrition resulting from the malabsorption of fundamental nutrients and recurring lung infections, with a [...] Read more.
Cystic fibrosis (CF) is a multisystem autosomal recessive disease caused by mutations that lead to deficient or dysfunctional CF transmembrane conductance regulator (CFTR) proteins. Patients typically present malnutrition resulting from the malabsorption of fundamental nutrients and recurring lung infections, with a progressive worsening of the respiratory function. For these reasons, the clinical management of CF requires a multidisciplinary team. From an endocrinological point of view, patients often present major complications, such as diabetes, bone disease, thyroid disorders, delayed growth and puberty, hypogonadism and infertility, which negatively affect their quality of life and, in some cases, significantly reduce life expectancy. These complications can arise as a direct result of CFTR dysfunction and/or as a consequence of a deterioration in the function of the organs affected. The objective of this review is to analyze all the possible endocrinological complications that can occur in patients with CF by evaluating the most recent papers in the literature. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Genotype, Clinical Features, and Current Comorbidities)
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24 pages, 957 KiB  
Review
Intestinal Inflammation and Alterations in the Gut Microbiota in Cystic Fibrosis: A Review of the Current Evidence, Pathophysiology and Future Directions
by Rachel Y. Tam, Josie M. van Dorst, Isabelle McKay, Michael Coffey and Chee Y. Ooi
J. Clin. Med. 2022, 11(3), 649; https://doi.org/10.3390/jcm11030649 - 27 Jan 2022
Cited by 23 | Viewed by 5223
Abstract
Cystic fibrosis (CF) is a life-limiting autosomal recessive multisystem disease. While its burden of morbidity and mortality is classically associated with pulmonary disease, CF also profoundly affects the gastrointestinal (GI) tract. Chronic low-grade inflammation and alterations to the gut microbiota are hallmarks of [...] Read more.
Cystic fibrosis (CF) is a life-limiting autosomal recessive multisystem disease. While its burden of morbidity and mortality is classically associated with pulmonary disease, CF also profoundly affects the gastrointestinal (GI) tract. Chronic low-grade inflammation and alterations to the gut microbiota are hallmarks of the CF intestine. The etiology of these manifestations is likely multifactorial, resulting from cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction, a high-fat CF diet, and the use of antibiotics. There may also be a bidirectional pathophysiological link between intestinal inflammation and changes to the gut microbiome. Additionally, a growing body of evidence suggests that these GI manifestations may have significant clinical associations with growth and nutrition, quality of life, and respiratory function in CF. As such, the potential utility of GI therapies and long-term GI outcomes are areas of interest in CF. Further research involving microbial modulation and multi-omics techniques may reveal novel insights. This article provides an overview of the current evidence, pathophysiology, and future research and therapeutic considerations pertaining to intestinal inflammation and alterations in the gut microbiota in CF. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Genotype, Clinical Features, and Current Comorbidities)
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25 pages, 1635 KiB  
Review
Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine
by Lăcrămioara Ionela Butnariu, Elena Țarcă, Elena Cojocaru, Cristina Rusu, Ștefana Maria Moisă, Maria-Magdalena Leon Constantin, Eusebiu Vlad Gorduza and Laura Mihaela Trandafir
J. Clin. Med. 2021, 10(24), 5821; https://doi.org/10.3390/jcm10245821 - 13 Dec 2021
Cited by 18 | Viewed by 6285
Abstract
Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a high phenotypic variability present even in patients with the same genotype. This is due to the intervention [...] Read more.
Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a high phenotypic variability present even in patients with the same genotype. This is due to the intervention of modifier genes that interact with both the CFTR gene and environmental factors. The purpose of this review is to highlight the role of non-CFTR genetic factors (modifier genes) that contribute to phenotypic variability in CF. We analyzed literature data starting with candidate gene studies and continuing with extensive studies, such as genome-wide association studies (GWAS) and whole exome sequencing (WES). The results of both types of studies revealed that the number of modifier genes in CF patients is impressive. Their identification offers a new perspective on the pathophysiological mechanisms of the disease, paving the way for the understanding of other genetic disorders. In conclusion, in the future, genetic analysis, such as GWAS and WES, should be performed routinely. A challenge for future research is to integrate their results in the process of developing new classes of drugs, with a goal to improve the prognosis, increase life expectancy, and enhance quality of life among CF patients. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Genotype, Clinical Features, and Current Comorbidities)
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