Journal of Cystic Fibrosis最新文献

{"title":"ECFS statement on theratyping and theranostics in the context of rare and ultrarare CFTR variants in people with CF.","authors":"Kris De Boeck, Pierre-Régis Burgel, Marlou Bierlaagh, Kate Hill, Margarida Amaral, Liron Birimberg-Schwartz, John Joseph Brewington, Jane C Davies, Bulent Karadag, Ulrich Martin, Martin Mense, Nicoletta Pedemonte, Neeraj Sharma, Jennifer L Tayor-Cousar, Isabelle Sermet, Jeffrey M Beekman","doi":"10.1016/j.jcf.2026.04.013","DOIUrl":"https://doi.org/10.1016/j.jcf.2026.04.013","url":null,"abstract":"<p><p>Genotype-based drug development has yielded highly effective therapies, notably the triple combinations elexacaftor/tezacaftor/ivacaftor (ETI) and vanzacaftor/tezacaftor/deutivacaftor (VTD), now approved in Europe for people with CF having at least one non-class I variant. However not all these people with CF will respond to ETI or VTD, and a few not under the label may respond. Facilitating opportunities to access for patients with rare variants has required a shift in paradigm toward functional testing-based access. This approach assesses the potential benefit of modulator therapy using in vitro functional assays, either in engineered systems expressing defined CFTR variants (theratyping) or in patient-derived tissues (theranostics). We review theranostics as a critical tool for personalized medicine in CF, highlighting its validation in in vitro models derived from patients' own cells such as human intestinal organoids and human nasal epithelial cells. We discuss the current regulatory landscape regarding modulator approval and propose strategies for improving equitable access to effective treatments for all people with CF. Importantly, we advocate for functional assays to be accepted as standalone evidence of drug efficacy for patients with rare variants. Theranostic approaches remain critical when theratyping has not been achieved, and genetic data is not available or clearly interpretable. Indeed, theranostics has emerged as an essential pillar of CF drug access, complementing genotype-driven strategies. As the field advances, continued validation, standardization, and regulatory integration of in vitro functional assays will be key to ensuring that every person with CF-regardless of their genotype-has the opportunity to benefit from precision therapies.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147838463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ocular surface and anterior segment changes in cystic fibrosis: evidence of a corneal and conjunctival epithelial phenotype - a case-control study.","authors":"Sławomir Liberski, Bartosz Skulimowski, Aleksandra Kałużna, Goran Petrovski, Szczepan Cofta, Jarosław Kocięcki","doi":"10.1016/j.jcf.2026.04.009","DOIUrl":"https://doi.org/10.1016/j.jcf.2026.04.009","url":null,"abstract":"<p><strong>Background: </strong>To characterize anterior segment structural alterations in adults with cystic fibrosis (CF), with emphasis on conjunctival and corneal epithelial parameters, and to compare them with healthy controls.</p><p><strong>Methods: </strong>This cross-sectional study included 33 adults with CF and 33 age- and sex-matched controls. Swept-source OCT was used to quantify bulbar conjunctival thickness (BCT) and bulbar conjunctival epithelial thickness (BCEpT) in four quadrants, as well as central corneal epithelial thickness (CEpT) and central corneal thickness (CCT). Keratometry and non-invasive TBUT (N-TBUT) were assessed using the Topcon MYAH multifunctional device. Endothelial parameters were evaluated with specular microscopy, and symptoms were recorded with the OSDI questionnaire.</p><p><strong>Results: </strong>CF patients exhibited significant BCEpT thinning across all quadrants (all p < 0.001) and selective temporal BCT thinning (p < 0.05). CEpT was significantly reduced (p < 0.010), while CCT remained comparable between groups (p > 0.100). Keratometric values (K1, K2) were steeper in CF (p < 0.05). N-TBUT was preserved mainly, although CF individuals reported higher OSDI scores (p < 0.01). Endothelial cell density and morphology showed no between-group differences (all p > 0.100). No significant correlations were found between ocular structural parameters and lung function indices.</p><p><strong>Conclusions: </strong>CF is associated with a distinct epithelial phenotype characterized by thinning of both conjunctival and corneal epithelium and steeper anterior corneal curvature, while stromal and endothelial layers remain preserved. These findings indicate preferential involvement of CFTR-dependent epithelial tissues and suggest early, subclinical ocular surface alterations in CF.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147838486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expiratory lung MRI: a simple, sensitive method to quantify and visualise regional gas trapping in cystic fibrosis.","authors":"Amy V Simmons, Laurie J Smith, Zoe Somerville, Hannah Faulke, William Clark, David Hughes, Ina Aldag, Noreen West, Alberto M Biancardi, Jim M Wild, Neil J Stewart","doi":"10.1016/j.jcf.2026.04.008","DOIUrl":"https://doi.org/10.1016/j.jcf.2026.04.008","url":null,"abstract":"<p><strong>Background: </strong>Computed tomography is the gold standard for visually assessing gas trapping, a hallmark of early lung disease in people with cystic fibrosis (pwCF), but its use is limited in children. Lung proton magnetic resonance imaging (¹H-MRI) offers a simple, non-ionising alternative. This work aimed to use breath-hold ¹H-MRI to visualise and quantify gas trapping in pwCF.</p><p><strong>Methods: </strong>24 normal controls (9 adults, 15 children) and 27 pwCF underwent breath-hold ¹H-MRI at residual volume (RV) and total lung capacity (TLC). For each participant, a threshold was defined from the TLC image and applied to the RV image to quantify low-signal areas, presumed to be gas trapping, as a gas trapping volume (GTV). An upper limit of normal (ULN) was defined based on the normal distribution of GTV, and GTV was compared to spirometry, body plethysmography, multiple breath washout and ¹²⁹Xe Ventilation MRI.</p><p><strong>Results: </strong>Gas trapping was visualised in pwCF as regions of low signal intensity on RV images. Healthy volunteers had a median GTV of 2.93% (0.32-14.37%). PwCF had a GTV of 21.80% (2.04-82.68%) and FEV₁ z-scores of -1.14 (-5.43, 2.17), with 14 having normal FEV₁. The ULN of GTV was 7.01%; 9/14 pwCF with normal spirometry exceeded this. In pwCF, GTV is strongly correlated with FEV₁ z-scores, ¹²⁹Xe-MRI ventilation defect percentage, and gas trapping measured by body plethysmography (RV/TLC%).</p><p><strong>Conclusions: </strong>Using a standard, easily implementable breath-hold ¹H-MRI protocol, gas trapping in CF can be clearly visualised and quantified. Preliminary evidence shows lung function impairment in pwCF who have normal FEV₁.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147815643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"International Delphi consensus recommendations for the follow-up of children born to people with CF and exposed to CFTR modulators in utero or through breastfeeding; endorsed by the European Cystic Fibrosis Society.","authors":"Idan Bokobza, Traci M Kazmerski, Louise Thomson, Rebecca V Scott, Amy Downes, Claire L Hogg, Siân Bentley, Elaine Bowman, Lynn Sinitsky, Olivia Beaumont, Ladina Weitnauer, Quitterie Reynaud, Philippe Reix, Imogen Felton, Jane C Davies","doi":"10.1016/j.jcf.2026.04.006","DOIUrl":"https://doi.org/10.1016/j.jcf.2026.04.006","url":null,"abstract":"<p><strong>Background: </strong>Pregnancies among people with cystic fibrosis (PwCF) have increased in the CFTR modulator (CFTRm) era. However, pregnant PwCF were excluded from CFTRm trials, limiting evidence on offspring outcomes after in utero and breast milk exposure. Follow-up practices for exposed children vary, and no widely accepted recommendations exist. We aimed to develop the first international recommendations for clinical follow-up of children exposed to CFTRm in utero and/or via breastfeeding.</p><p><strong>Methods: </strong>An international survey of follow-up practices and a literature review informed item generation for a Delphi consensus survey. We recruited panellists from four clinician groups (paediatric CF, adult CF, non-CF physicians, and other healthcare professionals) and a group of PwCF. An a priori consensus threshold was set at ≥70 % overall agreement and ≥50 % agreement within each group, with up to three survey rounds. The Imperial College Research Ethics Committee granted ethical approval. The protocol was prospectively registered (DOI:10.17605/OSF.IO/VJ2Z8).</p><p><strong>Results: </strong>Completed responses were submitted by 106, 101 and 107 panellists in rounds 1-3, respectively, representing 26 countries. Clinician panellists had a median of 18 years' clinical experience (IQR 10-25). Eight PwCF participated. Consensus was reached on 73 items, including follow-up setting, liver function monitoring, cataract screening, and potential false-negative CF newborn screening. In total, we received 941 free-text comments which we used to refine existing items and generate new ones for subsequent rounds.</p><p><strong>Conclusion: </strong>International consensus recommendations are now available to support consistent, implementable follow-up of children exposed to CFTRm in utero and/or via breastfeeding, adaptable to local practice.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A disrupted microbial network and an ecological shift towards anaerobes in NTM-infected cystic fibrosis patients.","authors":"Hélène Pailhoriès, Lourdes Velo-Suarez, Yann Moalic, Juliana Alcoforado-Diniz, Stéphanie Gouriou, Antoine Bessou, Emmanuelle Cambau, Pierre-Régis Burgel, Jean-Louis Herrmann, Geneviève Héry-Arnaud","doi":"10.1016/j.jcf.2026.04.005","DOIUrl":"https://doi.org/10.1016/j.jcf.2026.04.005","url":null,"abstract":"<p><p>Nontuberculous mycobacteria (NTM) are increasingly recognized as opportunistic pathogens in people with cystic fibrosis (pwCF), but the ecological factors shaping their presence remain poorly understood. This study characterized the airway microbiota associated with NTM-positive culture using 16S rRNA gene sequencing of sputum from 108 pwCF (36 NTM-positive and 72 NTM-negative), matched by age, sex at birth, and CFTR genotype. Analyses integrated diversity metrics, differential-abundance modeling, multivariate regression, and microbial network inference, while accounting for Pseudomonas aeruginosa colonization. NTM-positive individuals exhibited slightly higher α-diversity and enrichment in strictly anaerobic taxa such as Alloprevotella tannerae, Stomatobaculum spp., and Prevotella nanceiensis, alongside reduced network connectivity. P. aeruginosa remained the dominant ecological driver, strongly reducing community diversity and structure. Partial Least Squares regression revealed that CFTR modulators (lumacaftor/ivacaftor) use and lung function (FEV₁%) were associated with distinct, commensal-enriched communities. In contrast, NTM status was associated with a distinct axis, indicating an independent ecological niche. Overall, NTM-positive cultures were associated with an anaerobe-enriched but less structured microbiota, likely reflecting localized hypoxia and biofilm-associated microenvironments rather than a direct effect of disease severity or modulator therapy. These findings highlight the role of airway microecology in NTM presence and provide a framework for understanding host-microbe interactions in chronic CF airway infections.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine learning analysis of continuous glucose monitoring identifies a novel dysglycemic phenotype found in most people with cystic fibrosis.","authors":"Jiafeng Song, Jessica Alvarez, Alasdair Gent, Scott Gillespie, Ryan A Harris, Jocelyn McNeany, Tanicia Daley, Rishikesan Kamaleswaran, Arlene Stecenko","doi":"10.1016/j.jcf.2026.04.001","DOIUrl":"https://doi.org/10.1016/j.jcf.2026.04.001","url":null,"abstract":"<p><strong>Background: </strong>Cystic fibrosis related diabetes (CFRD) is a common complication in people with cystic fibrosis (PwCF), yet traditional diagnostic tools such as fasting glucose, HbA1c, and the oral glucose tolerance test (OGTT) often fail to detect early dysglycemia. Continuous glucose monitoring (CGM) generates high resolution glucose data, but analytic methods for extracting meaningful phenotypes remain limited.</p><p><strong>Methods: </strong>CGM data from 82 PwCF aged 6 to 78 years were compared with 166 healthy controls (HC). Thirty-two glycemic features were extracted from 24-hour CGM segments. Uniform Manifold Approximation and Projection (UMAP) was trained using HC and CFRD data, and Silhouette scores quantified the alignment of each daily profile with these clusters. Group differences were evaluated using linear mixed effects models.</p><p><strong>Results: </strong>UMAP showed complete separation between HC and CFRD. Mean Silhouette score values were +0.35 (95% CI: 0.31 to 0.38) for HC and -0.77 (95% CI: -0.83 to -0.71) for CFRD. PwCF classified as normal glucose tolerance (NGT) or impaired glucose tolerance (IGT) had negative Silhouette score values, -0.58 (95% CI: -0.67 to -0.49) and -0.56 (95% CI: -0.63 to -0.49), with no difference between groups.</p><p><strong>Conclusions: </strong>Machine learning analysis of CGM data revealed a pervasive dysglycemic phenotype in PwCF. NGT and IGT individuals showed similar glycemic profiles shifted toward the CFRD phenotype, indicating that OGTT categories underestimate early metabolic dysfunction. CGM based digital phenotyping offers a more sensitive and continuous assessment of dysglycemia and may improve early detection and risk stratification in PwCF.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of CFRD development among females with CF who use hormonal contraception.","authors":"F N Khan, A Magaret, C Hsu, R Jain, N M West, J L Taylor-Cousar, A H Roe, A Uluer, L A Bray, E M Godfrey","doi":"10.1016/j.jcf.2026.04.004","DOIUrl":"https://doi.org/10.1016/j.jcf.2026.04.004","url":null,"abstract":"<p><strong>Background: </strong>Research suggests the effects of combined (containing both estrogen and progestin) hormonal contraception (CHC) can negatively affect insulin sensitivity. This study aims to better understand the associations between hormonal contraceptive (HC) use, prevalence of existing CFRD, and incidence of developing CFRD in females with CF.</p><p><strong>Methods: </strong>Between January 2021 to April 2022, we recruited females ages 18-45 years with CF from 10 CF centers to complete a retrospective online questionnaire regarding contraceptive use from 2008 to survey completion year. We linked survey responses to the CF Foundation's Patient Registry (CFFPR) covering the same years as the survey. We examined potential associations with CFRD, incidence of new CFRD, and CFRD's association with HC using Cox regression adjusted for age, body mass index, CF modulator use, and educational level.</p><p><strong>Results: </strong>In our observational cohort of 551 persons completing the survey and with information in the CFFPR, the incidence of reported CFRD was low at 145 cases per 3674 person-years (p-y). Neither BMI nor age were found to be associated with CFRD incidence. Elevated plasma glucose, 2-hour oral glucose tolerance test, and HbA1c were all significantly associated with CFRD. Compared to no modulator use, CF modulator use was associated with a similar rate of CFRD (HR 1.04, 95% CI 0.50 to 2.17). Among non-modulator users, CFRD incidence was significantly associated with CHC use (HR = 1.53, 95% CI 1.03 to 2.27).</p><p><strong>Conclusion: </strong>In this retrospective observational study, CHC was associated with a higher incidence of CFRD among non-modulator users.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2026-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147722890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lack of clinical change in longitudinal vibration controlled transient elastography among children with cystic fibrosis and poor association with non-invasive biomarkers of liver disease.","authors":"Wen Ye, Suiyuan Huang, Molly Bozic, Boaz Karmazyn, Roger Harned, Daniel H Leung, Prakash Masand, Adina Alazraki, Simon C Ling, Oscar M Navarro, Nicole Green, Randolph K Otto, Joseph J Palermo, Alexander J Towbin, Estella M Alonso, Jennifer L Nicholas, John C Magee, Michael R Narkewicz, A Jay Freeman","doi":"10.1016/j.jcf.2026.04.002","DOIUrl":"https://doi.org/10.1016/j.jcf.2026.04.002","url":null,"abstract":"<p><strong>Background: </strong>Liver stiffness measurement (LSM) has gained interest as a modality to screen for cystic fibrosis hepato-biliary involvement (CFHBI) and monitor for disease progression. Studies of its effectiveness in longitudinal prospective cohorts are lacking.</p><p><strong>Methods: </strong>The ELASTIC study evaluated LSM by FibroScan® in children with or without CFHBI. Liver ultrasound (US) and clinical data were collected annually. Changes in LSM were assessed for association with US grade and changes in noninvasive biomarkers of liver disease. Additionally, we evaluated intra-individual variation in LSM measurements utilizing the reliable change index.</p><p><strong>Results: </strong>There were 96 participants completed longitudinal assessment by FibroScan® with US and laboratory data available within one-year. Nodular (NOD) and normal (NL) US patterns were significantly associated with decrease in LSM (-5.4% and -4.7% respectively), but within expected variability. No association with LSM was observed among heterogenous (HTG) or homogenous (HMG) US patterns. Reliable change index showed large intra-individual variation between FibroScan® examinations with a decrement of 48% through an increment of 93% being within the normal range of expected variation. Changes in LSM were associated (p < 0.001) with clinical variables including GGT (r= 0.64), spleen size z-score (r=0.42), platelets (r=-0.38), and APRI (r=0.34).</p><p><strong>Conclusion: </strong>There is considerable intra-individual variation of LSM by FibroScan® among children with or without CFHBI. We were unable to detect incremental changes in LSM in CFHBI. Significant association between changes in LSM and biomarkers of liver disease were observed. Further exploration is required to determine the clinical utility of LSM in the assessment of CFHBI.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147699001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dupilumab in the treatment of severe chronic rhinosinusitis with nasal polyps (CRSwNP) in cystic fibrosis patients.","authors":"Attilio Di Girolamo, Mattia Cristallo, Michelina Francesca Daddato, Federico Spataro, Giuseppina Leonetti, Pamela Vitullo, Eustachio Nettis","doi":"10.1016/j.jcf.2026.04.003","DOIUrl":"https://doi.org/10.1016/j.jcf.2026.04.003","url":null,"abstract":"<p><p>Chronic rhinosinusitis with nasal polyps (CRSwNP) manifests as either a solitary upper airway involvement or as part of a more intricate clinical picture, such as Cystic Fibrosis (CF). The altered viscoelastic properties of mucus facilitate the colonisation of bacteria, thereby instigating a process that perpetuates a state of chronic inflammation. Dupilumab, a monoclonal antibody that blocks IL-4/IL-13-signalling, has been demonstrated to improve nasal obstruction and the sense of smell. This observational real-life study comprised 10 patients diagnosed with CRSwNP and CF. The following scores were considered to ascertain the severity of rhinosinusitis: Nasal Polyp Score (NPS), Sino-Nasal Outcome Test (SNOT-22 score), Nasal Congestion/Obstruction Symptom severity score (NCS), Visual Analogue Scale for rhinosinusitis (VAS), and Loss of Smell score (LOS). Moreover, spirometry parameters and the number of new infections/hospital admissions were considered for lung involvement. Blood parameters, including the number of eosinophils and the total serum IgE level, were assessed. After six months of therapy, the median value of the NPS score decreased from 4 (IQR 1.75) to 1.5 (IQR 4.5; P < 0.01) and the SNOT-22 score from 55 (IQR 8.75) to 13.5 (IQR 13.5; P < 0.0001). FEV1 improved from a median value of 2.28 L (IQR 1.26) to 2.54 L (IQR 1.02). Serum IgE and blood eosinophil count did not change significantly. Dupilumab has proven to be effective in reducing the size of nasal polyps and improving associated symptoms in patients with CF who have type 2inflammation-related comorbidities, without the occurrence of adverse events.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An update on cystic fibrosis Hepato-biliary involvement.","authors":"A Jay Freeman, Frank A J A Bodewes","doi":"10.1016/j.jcf.2026.03.022","DOIUrl":"https://doi.org/10.1016/j.jcf.2026.03.022","url":null,"abstract":"<p><p>Liver involvement among people with cystic fibrosis (PwCF) has long been recognized as clinically important. However, a lack of consistent terminology, incomplete understanding of natural history, and poor clinical trial endpoints have historically hindered clinical and research advancements in this field. Recent efforts by the CF Foundation and international gastrointestinal societies have led to a phenotype-based classification for liver involvement, now referred to as Cystic Fibrosis Hepato-Biliary Involvement (CFHBI), with the most severe form of disease termed advanced CF liver disease (aCFLD). Longitudinal studies such as PUSH, combined with national patient registry data, has greatly improved our understanding of the natural history of CFHBI. Several studies have assessed the utility of conventional serological markers of liver disease, non-invasive liver fibrosis indices, and imaging with various elastography modalities to screen for CFHBI and monitor for progression to aCFLD. This has led to the first evidence-based consensus recommendations for the screening, evaluation and management of CFHBI in children. These recommendations provide a foundation from which future research can build from. Finally, while there is emerging population-level data suggesting that modulator therapies are decreasing the rates of aCFLD, the true impact of these medications on CFHBI remains unknown. In this review we provide an overview of the recent advancements leading to the recent consensus recommendations, summarize what is known about the impact of modulator therapies on CFHBI, and discuss the outstanding questions that need to be addressed to advance our understanding of CFHBI.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147654314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}