Clin Chem Lab Med. 2025 Jun 9. doi: 10.1515/cclm-2025-0433. Online ahead of print.

ABSTRACT

The sweat test is used as a biological marker of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction, but there is growing recognition that sweat chloride concentrations of people with cystic fibrosis (CF) can overlap with those without CF. There are also people without CF whose symptoms are caused by abnormalities of CFTR. To support clinical decisions, the sweat chloride test conducted appropriately should provide consistent results between laboratories and common decision limits should be used. International consensus guidelines now recommend a standard set of clinical decision limits for sweat chloride, with values between 30 and 59 mmol/L, as the intermediate result for all ages. It is therefore timely to update the Australasian guideline decision limits to align with international consensus guidelines and peak body recommendations. At the same time, the technical aspects for performance of the sweat chloride test should be reviewed. This paper updates (and replaces) the guideline for the performance of the sweat chloride test that were last published by the AACB in 2017. This freely available guideline was developed to support Australasian laboratories, and laboratories from other regions, with the accurate performance of sweat chloride testing. The guideline provides 16 recommendations for the performance of the sweat chloride test encompassing the total testing process. Previous recommendations related to sweat conductivity testing have been removed from this guideline. The sweat chloride decision limits of ≥30 mmol/L support a review by a CF physician for all age groups. Sweat chloride concentrations of ≥60 mmol/L are supportive of a diagnosis of CF.

PMID:40476459 | DOI:10.1515/cclm-2025-0433

Int J Cardiol Congenit Heart Dis. 2025 May 5;20:100590. doi: 10.1016/j.ijcchd.2025.100590. eCollection 2025 Jun.

NO ABSTRACT

PMID:40475704 | PMC:PMC12140042 | DOI:10.1016/j.ijcchd.2025.100590

IUBMB Life. 2025 Jun;77(6):e70031. doi: 10.1002/iub.70031.

ABSTRACT

Over 7000 rare diseases have been described, collectively affecting 350 million people worldwide. Most of these conditions result from nonsense mutations, representing approximately 10% of all genetic mutations associated with human inherited diseases. Nonsense mutations convert a sense codon into a premature termination codon (PTC), leading to premature translation termination and the production of truncated, nonfunctional proteins. This results in a loss-of-function phenotype in many genetic disorders, contributing to the disease's severity and progression. The molecular mechanisms of PTC formation involve various genetic alterations, including single-nucleotide changes, frameshifts, and splicing mutations. The nonsense-mediated mRNA decay (NMD) pathway degrades mRNAs containing premature termination codons (PTCs). In contrast, 25% of PTC mRNAs, depending on the PTC position and cellular context, can evade NMD, resulting in the synthesis of truncated proteins. A termination codon during translation is essential for proper protein synthesis, and translational readthrough-a process in which the ribosome bypasses the PTC and reaches the natural stop codon-may restore some level of protein function. The effectiveness of readthrough depends on the surrounding genetic context and the type of amino acid incorporated at the PTC position. This review aims to explore the molecular characteristics of nonsense-related diseases (NRDs), including cystic fibrosis, hemophilia, Fabry disease, choroideremia, Usher syndrome, Shwachman-Diamond syndrome, and certain hereditary neuropathies and cancers.

PMID:40474765 | DOI:10.1002/iub.70031

Expert Rev Respir Med. 2025 Jun 5. doi: 10.1080/17476348.2025.2517302. Online ahead of print.

ABSTRACT

INTRODUCTION: Allergic bronchopulmonary aspergillosis (ABPA) is a lung disorder that arises in individuals with asthma or cystic fibrosis due to an exaggerated immune response to Aspergillus fumigatus. It leads to mucus plugging, recurrent exacerbations, and progressive bronchiectasis. Despite established diagnostic criteria, ABPA remains underdiagnosed, primarily due to its overlap with severe asthma and limited clinical awareness. Evolving insights into immunopathogenesis and the emergence of targeted therapies have begun to transform the management of ABPA.

AREAS COVERED: We discuss the current evidence on immunopathogenesis, treatment, and monitoring of ABPA in asthma. The review covers established and emerging therapies, including systemic glucocorticoids, oral triazoles (such as itraconazole), inhaled antifungals, and biological agents. We provide practical guidance for initiating treatment based on disease phenotype and discuss treatment monitoring using clinical symptoms, serum biomarkers, chest imaging, and lung function tests.

EXPERT OPINION: The management of ABPA is poised for a paradigm shift toward precision medicine. Future strategies will likely be driven by international registries, biomarker discovery using omics-based platforms, and the identification of endotype- and phenotype-specific treatments. Randomized trials comparing biologic therapies, combination approaches using antifungals and biologics, and the development of inhaled antifungal delivery systems are likely to reshape the management of ABPA.

PMID:40474578 | DOI:10.1080/17476348.2025.2517302

Eur Respir J. 2025 Jun 5;65(6):2500778. doi: 10.1183/13993003.00778-2025. Print 2025 Jun.

NO ABSTRACT

PMID:40473307 | DOI:10.1183/13993003.00778-2025

Diabetes Res Clin Pract. 2025 Jun 3:112302. doi: 10.1016/j.diabres.2025.112302. Online ahead of print.

ABSTRACT

AIMS: Fear of hypoglycemia limits sports in type 1 diabetes (T1D). This study aimed to evaluate the efficacy of Diabrasport glycemic management algorithms over a week with three real-life exercise sessions.

METHODS: A multicentre non-inferiority study including 43 adults with T1D using insulin pumps, continuous glucose monitoring was conducted over three one-week periods: rest, exercise with personal insulin algorithms (PersonalAlgo), and exercise with Diabrasport insulin algorithms (DiabraAlgo). The exercise period consisted of three sessions of 45-60 min per week of physical activity. DiabraAlgo included: (i) 100% basal rate reduction for intense post-absorptive exercise, (ii) 80% basal rate reduction during moderate exercise in the post-absorptive period and for two hours afterwards, and (iii) 50% prandial bolus reduction for moderate postprandial exercise.

RESULTS: Hypoglycemia (<70 mg/dL) was not more frequent with DiabraAlgo (0.88 ± 0.62) during exercise than during rest (1.03 ± 0.61) (95 % CI - 0.04 to 0.33, non-inferiority margin 0.35, p < 0·001). No difference was found between PersonalAlgo and DiabraAlgo in post-absorptive exercise, but during moderate postprandial exercise, DiabraAlgo resulted in less time in hypoglycemia (6.1 ± 9.8 % vs. 10.5 ± 12.8 %, p < 0.05) and fewer hypoglycemic episodes (1.0 ± 1.1 vs. 1.4 ± 1.3, p < 0.05).

CONCLUSION: DiabraAlgo enables an effective adaptation of insulin levels during exercise promoting their immediate applicability for individuals with T1D.

PMID:40473027 | DOI:10.1016/j.diabres.2025.112302

Am J Gastroenterol. 2025 Jun 5. doi: 10.14309/ajg.0000000000003571. Online ahead of print.

NO ABSTRACT

PMID:40471859 | DOI:10.14309/ajg.0000000000003571

Ann Med. 2025 Dec;57(1):2514787. doi: 10.1080/07853890.2025.2514787. Epub 2025 Jun 5.

ABSTRACT

INTRODUCTION: As the life expectancy of people with cystic fibrosis (CF) increases, complications related to CF, such as CF-related diabetes (CFRD), are of great concern. Oral glucose tolerance test (OGTT) is the current gold standard test to screen for CFRD, which is associated with reduced lung function and body mass index (BMI). However, this is a cumbersome test with poor adherence, and emerging evidence suggests that HbA1c or serum fructosamine might be viable alternative screening tools.

RESEARCH DESIGN AND METHODS: A multi-center study across four Canadian adult CF centers was conducted to determine the ability of HbA1c and serum fructosamine levels to predict screening OGTT results. Cross-sectional outcome data, including ppFEV1 and BMI within two months of testing, were collected.

RESULTS: A total of 183 CFRD screening encounters over five years were included. HbA1c and the fructosamine-to-albumin ratio had similar predictive performances for CFRD as determined by OGTT-defined cutoffs (AUC both 0.68) and for impaired glucose tolerance (AUC 0.69 and 0.64, respectively). However, the specificity of FAR is lower, meaning fewer OGTTs can be avoided if FAR is used as a first-step screening test when screening for either CFRD and/or IGT compared to HbA1. The optimal HbA1c cut-off for CFRD screening was ≥5.5% (sensitivity, 95%; specificity, 32%). Regression analyses demonstrated a strong inverse correlation between HbA1c and ppFEV1 (p < 0.0001), while the OGTT was inversely correlated with ppFEV1 (p < 0.05), and the fructosamine-to-albumin ratio was inversely correlated with BMI (-0.9; 95% CI -1.5, -0.4; p = 0.002), but not with ppFEV1 within 2 months of testing.

CONCLUSION: HbA1c is validated as a first step in screening for CFRD, allowing one-third of the patients to avoid the OGTT. As HbA1c demonstrated a stronger correlation with ppFEV1 than the OGTT, consideration could be made to redefine CFRD based on HbA1c.

PMID:40471094 | DOI:10.1080/07853890.2025.2514787

ERJ Open Res. 2025 Jun 2;11(3):00897-2024. doi: 10.1183/23120541.00897-2024. eCollection 2025 May.

ABSTRACT

BACKGROUND: Clinical trials with elexacaftor/tezacaftor/ivacaftor (ETI) in people with cystic fibrosis were associated with significant improvements in % predicted forced expiratory volume in 1 s (FEV1 % pred), sweat chloride, weight and quality of life in the respiratory domain from the cystic fibrosis questionnaire revised (CFQ-R). Limited data exist on its effect on structural lung disease and inflammatory cytokines.

METHODS: In a real-world setting with 61 people with cystic fibrosis, we prospectively recorded FEV1, sweat chloride, body mass index (BMI) and CFQ-R at baseline, 3 and 6 months after commencement of ETI. In addition, changes in ultra-low-dose (ULD) computed tomography (CT) Bhalla score, peripheral-blood and sputum inflammatory cytokines and patient-reported outcome measures (PROMs), including sino-nasal outcomes test-22 (SNOT-22) and fatigue scale (FACIT-Fatigue).

RESULTS: Significant improvements in FEV1 % pred (p=0.0001), sweat chloride (p<0.0001) and BMI (p=0.0147) after ETI treatment were noted. ULD-CT scores demonstrated reductions in peri-bronchial thickening, mucus plugging and total Bhalla score (p<0.001), and improvements in emphysema extent (p<0.0027). Improvements in systemic inflammatory status were seen with a reduction in interleukin (IL)-1β (p=0.0049), IL-6 and IL-8 (p<0.0001), and increasing IL-10 (p=0.004). Sputum cytokine analysis was not performed as only four of 61 patients spontaneously expectorated sputum after ETI. PROMs improved significantly for the SNOT-22 (p<0.0001), FACIT-Fatigue score (p=0.0001) and CFQ-R domains, including respiratory (p<0.0001), physical (p=0.007), vitality (p=0.0004), treatment burden (p=0.0028), health (p=0.0007), social (p=0.0073), weight (p=0.0068) and role/school domain (p=0.0018).

CONCLUSION: ETI responders, demonstrate significant improvements in CT imaging, circulating cytokines and PROMs, which may be of further use evaluating cystic fibrosis transmembrane conductance regulator modulation treatment response.

PMID:40470159 | PMC:PMC12134916 | DOI:10.1183/23120541.00897-2024

ERJ Open Res. 2025 Jun 2;11(3):00675-2024. doi: 10.1183/23120541.00675-2024. eCollection 2025 May.

ABSTRACT

BACKGROUND: There are limited data on optimal management of chronic lung allograft dysfunction (CLAD). We aimed to describe the variability of diagnostic and therapeutic practices in Europe.

METHODS: A structured questionnaire was sent to 71 centres in 24 countries. Questions were related to contemporary clinical practices for workup, monitoring and treatment of CLAD. The number of lung transplant procedures and patients in follow-up were collected.

RESULTS: 44 centres (62%) responded from 20 countries, representing 74% of European activity. The prevalence of CLAD was estimated at 9.1 cases per million population (25th and 75th percentiles of 4.4, 15.7). Preferred initial workup for probable CLAD consisted of chest computed tomography (CT) (inspiratory 91% and expiratory 74%), donor-specific antibody (DSA) measurement (86%), bronchoalveolar lavage (BAL) (85%) and transbronchial biopsy (81%). For monitoring of definite CLAD, inspiratory CT (67%), DSA (61%) and BAL (43%) were preferred. Body plethysmography was unavailable for 16% of cases. Prophylaxis was based on preventing infections (cytomegalovirus 99%, inhaled antibiotics 70% and antifungals 65%), tacrolimus-based immunosuppression (96%), azithromycin (72%) and universal proton pump inhibitor treatment (84%). First-line treatment of CLAD was based on azithromycin (82%) and steroid augmentation (74%). Photopheresis was used in 26% of cases.

CONCLUSION: Current European practice CLAD detection is based on spirometry, inspiratory CT and DSA, with limited access to plethysmography and expiratory CT. Prophylactic treatment is based on azithromycin, tacrolimus-based immunosuppression and treatment of risk factors. No single treatment strategy is universally used, highlighting the need for an effective treatment of CLAD. The preferred first-line strategy is azithromycin and steroid augmentation.

PMID:40470157 | PMC:PMC12134928 | DOI:10.1183/23120541.00675-2024

Pulm Med. 2025 May 28;2025:5683225. doi: 10.1155/pm/5683225. eCollection 2025.

ABSTRACT

Background: Therapeutic drug monitoring (TDM) for vancomycin (VAN) in adult people with cystic fibrosis (pwCF) historically has utilized trough concentrations. Recent VAN TDM guidelines recommend area under the curve (AUC) monitoring to reduce the risk of acute kidney injury (AKI), despite limited evidence to support this practice in adult pwCF. Methods: This single-center, retrospective, observational cohort study included 143 adult pwCF admitted from July 1, 2017, to July 1, 2022, with an acute pulmonary exacerbation that received VAN for at least 72 h with available VAN plasma concentrations for TDM for AUC (n = 39) or trough monitoring (n = 104). Eligible patients with multiple hospital admissions during the study period were incorporated as separate encounters. The primary outcome was the incidence of AKI. Results: Receipt of concurrent nephrotoxins was more common in the AUC cohort than in the trough cohort (97% vs. 81%, p = 0.01), but the rate of AKI was similar (7.7% vs. 10.6%, p = 0.76). AUC monitoring was associated with earlier achievement of TDM goal (median 0 days (IQR 0-2) vs. 2 days (IQR 0-4), p < 0.01), lower total daily doses (34.8 mg/kg/day (IQR 27.6-49) vs. 57.5 mg/kg/day (IQR 43.9-68.6), p < 0.01), and fewer regimen changes (median 1 change (IQR 0-2) vs. 2 changes (IQR 1-3), p < 0.01). In patients with MRSA, pulmonary function recovery, readmission, and mortality were similar. Conclusion: In adult pwCF, the incidence of AKI was similar between AUC and trough monitoring cohorts; however, AUC monitoring achieved therapeutic targets sooner with fewer regimen modifications without significantly increasing the number of concentrations compared to trough monitoring.

PMID:40469479 | PMC:PMC12136855 | DOI:10.1155/pm/5683225

World Allergy Organ J. 2025 May 9;18(5):101058. doi: 10.1016/j.waojou.2025.101058. eCollection 2025 May.

ABSTRACT

In recent years, it was recognized that type-2 inflammation connects nasal polyposis and severe asthma (SA) in addition to other type-2 diseases. Thus, some biological drugs developed for SA appeared to exert a favourable effect also in nasal polyposis. So far, there are several trials supporting this concept; therefore, some monoclonal antibodies already used for SA were assessed also in chronic rhinosinusistis with nasal polyposis (CRSwNP), with promising results. Since different specialists are involved in the management of nasal polyposis (eg, pulmonologists, ENT specialists, allergists, immunologists, pediatricians), it was felt that an updated educational and informative document was needed to better identify the indications of biological therapies in nasal polyposis. We collected the main Italian scientific societies, and prepared (under the umbrella of Allergic Rhinitis and its Impact on Asthma, ARIA) a document endorsed by all societies, to provide a provisional statement for the future use of monoclonal antibodies (MAbs) as a medical treatment for polyposis, possibly associated with SA. The above mentioned document was the first endorsed document on this aspect, and the additional evidence required an update. The current pathogenic knowledge and the experimental evidence are herein reviewed, and some suggestions for a correct prescription and follow-up are provided.

PMID:40469214 | PMC:PMC12136883 | DOI:10.1016/j.waojou.2025.101058

Clin Genet. 2025 Jun 5. doi: 10.1111/cge.14780. Online ahead of print.

ABSTRACT

This study assessed the effect of CFTR pathogenic variant status, detected during prenatal carrier screening, for the incidence and clinical recognition of cystic fibrosis-related phenotypes. Data were queried from the Vanderbilt University Medical Center clinical genetic database (CGdb), which includes clinically reported pathogenic variants and electronic health records (EHRs) from 2001 to 2023. Based on carrier screening results, we identified individuals heterozygous for a pathogenic CFTR variant and those who tested negative. Logistic regression tested associations between CFTR carrier status and 11 cystic fibrosis (CF)-related phenotypes. A phenome-wide association study (PheWAS) was performed to identify additional phenotypic associations, and manual chart review was conducted to evaluate recognition and clinical application of CFTR carrier status in patients diagnosed with pancreatitis. Among 12,082 women tested, CFTR carriers (n = 451) were at significantly higher risk of developing acute pancreatitis (p = 3.93 × 10-6; OR = 4.68 [2.43-9.00]). No other CF-related phenotypes were significantly associated in this female cohort. Manual chart review revealed that CFTR carrier screening results were not clinically correlated with pancreatitis diagnoses. In this large cohort of women tested for prenatal carrier screening, CFTR pathogenic variants relevant to pancreatitis were overlooked, despite informing etiology, management, and prognosis.

PMID:40468859 | DOI:10.1111/cge.14780

Nat Commun. 2025 Jun 4;16(1):5180. doi: 10.1038/s41467-025-60441-w.

ABSTRACT

Human airways contain specialized rare epithelial cells including CFTR-rich ionocytes that regulate airway surface physiology and chemosensory tuft cells that produce asthma-associated inflammatory mediators. Here, using a lung cell atlas of 311,748 single cell RNA-Seq profiles, we identify 687 ionocytes (0.45%). In contrast to prior reports claiming a lack of ionocytes in the small airways, we demonstrate that ionocytes are present in small and large airways in similar proportions. Surprisingly, we find only 3 mature tuft cells (0.002%), and demonstrate that previously annotated tuft-like cells are instead highly replicative progenitor cells. These tuft-ionocyte progenitor (TIP) cells produce ionocytes as a default lineage. However, Type 2 and Type 17 cytokines divert TIP cell lineage in vitro, resulting in the production of mature tuft cells at the expense of ionocyte differentiation. Our dataset thus provides an updated understanding of airway rare cell composition, and further suggests that clinically relevant cytokines may skew the composition of disease-relevant rare cells.

PMID:40467553 | DOI:10.1038/s41467-025-60441-w

J Cyst Fibros. 2025 Jun 3:S1569-1993(25)01488-2. doi: 10.1016/j.jcf.2025.05.003. Online ahead of print.

ABSTRACT

BACKGROUND: There are great changes in cystic fibrosis (CF) disease following introduction of modulator treatments. We aimed to focus on the evolution of hepatobiliary involvement following lumacaftor-ivacaftor (LI) and elexacaftor-tezacaftor-ivacaftor (ETI) initiation.

METHODS: A retrospective monocentric observational study included 62 CF children treated with CFTR modulators. Data were collected at initiation and after one year of treatment. The primary objective was to describe the evolution of hepatobiliary involvement under CFTR modulator treatment.

RESULTS: We identified hepatobiliary involvement before treatment in 37 patients (59.7 %). Fifteen had persistently (during >6 months) elevated liver enzymes (mostly ALT); 17 had abnormal ultrasound including 3 with nodular liver and 3 with pathological elastography; 5 had isolated splenomegaly. Biliary involvement was found in 19 patients. The evolution of hepatic parameters in the overall population was not significant (p > 0.05). However, we observed a trend towards improvement in laboratory values under treatment. There was only one inaugural diagnosis of nodular liver under LI and none under ETI. All patients had preserved liver function (PT>50 %).

CONCLUSIONS: We did not find a significant improvement or worsening of hepatobiliary involvement under CFTR modulators. We hypothesize that it could be stabilized with these treatments, but this will need confirmation through further studies with longer follow-up and larger cohorts. The other hypothesis proposed is that biological monitoring may not be an accurate assessment of the hepatobiliary response to modulators. This study supports the safety of CFTR modulator use.

PMID:40467431 | DOI:10.1016/j.jcf.2025.05.003

J Cyst Fibros. 2025 Jun 3:S1569-1993(25)01489-4. doi: 10.1016/j.jcf.2025.05.004. Online ahead of print.

ABSTRACT

BACKGROUND: Air travel may cause significant hypoxemia in patients with cystic fibrosis (CF). A pre-flight algorithm has previously been validated for patients with chronic obstructive pulmonary disease (COPD). No such tools are available for CF patients. The aim of this study was to evaluate if the pre-flight algorithm for COPD patients can be used by CF patients.

METHODS: In this prospective cross-sectional study, oxygen saturation at sea level (SpO2 SL) and during exercise (SpO2 6MWT) were used to evaluate whether CF patients a) are fit for flight without further assessment, b) require in-flight supplemental oxygen, or c) need further evaluation with hypoxia-altitude simulation test (HAST). HAST was used as reference method, and SpO2 HAST ≤85 % was the criterion for recommending in-flight supplemental oxygen.

RESULTS: 79 CF patients (41 men), age 38.0 ± 13.4 years, with FEV1 of 71±23 % of predicted underwent HAST (SpO2 HAST 89.2 ± 4.0 %). Categories for SpO2 SL were >95 % (N = 53), 92-95 % (N = 25), and <92 %, (N = 1), and the cut-off value for SpO2 6MWT was <84 %. HAST showed that CF patients with SpO2 SL >95 % combined with SpO2 6MWT ≥84 % can travel by air without further assessment. Supplemental oxygen is recommended if SpO2 SL is 92-95 % combined with SpO2 6MWT <84 %, or if SpO2 SL<92 %. Otherwise, HAST should be performed. Only 21 patients (27 %) would have needed referral to HAST. The algorithm correctly identified those who needed and those did not need in-flight supplemental oxygen.

CONCLUSIONS: The algorithm for COPD patients may be used in the pre-flight evaluation of adult CF patients.

CLINICALTRIALS: gov (NCT03843723).

PMID:40467430 | DOI:10.1016/j.jcf.2025.05.004

Endocr Pract. 2025 Jun 2:S1530-891X(25)00896-1. doi: 10.1016/j.eprac.2025.05.744. Online ahead of print.

ABSTRACT

OBJECTIVE: Hypoglycemia in hospitalized patients is a persistent adverse event. Three quality improvement interventions were implemented with the aim of reducing hypoglycemia. Each intervention was targeted at one component of typical inpatient insulin management (basal, prandial, and correction) to attempt to achieve this singular quality improvement aim.

METHODS: Incidence of hypoglycemia in non-obstetrics patients ≥ 19 years of age at a tertiary hospital receiving scheduled insulin before and after the implementation of quality improvement initiatives was compared. Incidence was defined as the number of unique patients with a hypoglycemic event in each month, divided by all admissions for that month. The interventions included integrating weight-based insulin guidance into the electronic medical record (EMR), the addition of a carbohydrate-limited diet, and increasing the threshold for correction insulin administration from 150 mg/dL to 180 mg/dL.

RESULTS: After implementation of the interventions, there was a significantly lower incidence of hypoglycemia associated with prandial insulin (p = 0.02) and correction insulin (p < 0.001). There was not a significant decrease in hypoglycemia associated with basal insulin in the overall sample (p =0.25). There was a significant decrease in a subgroup analysis focused on hospital-associated hyperglycemia and type 2 diabetes (via exclusion of patients with type 1 diabetes or cystic fibrosis-related diabetes) (p = 0.005). Notably, following the interventions, there was a reduction in institutional blood glucose readings within goal range (71-179 mg/dL), which presumably translates to an increase in hyperglycemia given the known decrease in hypoglycemia (p value <0.0001).

CONCLUSION: Through a multipronged approach consisting of three unique QI interventions - each targeting one aspect of inpatient insulin management - our academic institution was able to significantly reduce the number of inpatient hypoglycemic events.

PMID:40467034 | DOI:10.1016/j.eprac.2025.05.744

Clin Infect Dis. 2025 Jun 4;80(5):e65-e77. doi: 10.1093/cid/ciaf009.

ABSTRACT

Transformative changes in care for people with cystic fibrosis (CF; pwCF) have occurred, including most recently, the widespread use of CF transmembrane regulator modulator therapy. These novel therapies improve lung function, decrease pulmonary exacerbations, increase life expectancy, and improve quality of life. Changes in the CF population have also occurred. There are now more adults than children living with CF. A growing proportion of pwCF are black and/or Hispanic, many of whom are ineligible for modulator therapy due to their CF transmembrane regulator mutations, which may further exacerbate disparities in healthcare. Management of pulmonary exacerbations-including shared decision making between pwCF and providers, the limitations of antimicrobial susceptibility testing to predict treatment response, and the role of antimicrobial stewardship-is increasingly recognized by the CF community. Collaborations among infectious diseases specialists, antimicrobial stewards, CF care teams, and clinical microbiology laboratories are increasingly needed to optimize these newer care paradigms.

PMID:40465484 | DOI:10.1093/cid/ciaf009

Clin Infect Dis. 2025 Jun 4;80(5):939-941. doi: 10.1093/cid/ciaf010.

NO ABSTRACT

PMID:40465483 | DOI:10.1093/cid/ciaf010

J Community Genet. 2025 Jun 4. doi: 10.1007/s12687-025-00807-1. Online ahead of print.

ABSTRACT

Recent reports confirm that cystic fibrosis (CF) is a global disease. In Asian populations, both the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and the clinical course differ from those observed in Western populations. Although the recognition of CF is increasing in South Asia, comprehensive data from Southeast Asian countries remain sparse. The underdiagnosis of CF in Southeast Asia is attributed to limited awareness among healthcare professionals and restricted access to sweat chloride testing. Until 2021, CF had not been documented in the indigenous population of Vietnam. This study presents the first three confirmed cases of CF in native Vietnamese individuals. Additionally, a literature review of CF cases reported across Southeast Asia was conducted to provide insights into its prevalence and variations in CFTR mutation profiles within the region. A total of 50 cases were identified, distributed across Malaysia (30 cases), Thailand (8), the Philippines (6), Vietnam (5), and Indonesia (1), revealing a mutation spectrum distinct from that observed in Caucasian populations. The most common mutations included p.Phe508del and p.Ile1295PhefsX32, each found in 11.5% of cases. These findings highlight the need for increased clinical awareness, expanded access to sweat chloride testing, and the establishment of CF centers and regional CF registries to better understand and manage CF in Southeast Asia.

PMID:40465100 | DOI:10.1007/s12687-025-00807-1