Front Physiol. 2022 Oct 5;13:1019028. doi: 10.3389/fphys.2022.1019028. eCollection 2022.

ABSTRACT

Renal ion channel transport and electrolyte disturbances play an important role in the process of functional impairment and fibrosis in the kidney. It is well known that there are limited effective drugs for the treatment of renal fibrosis, and since a large number of ion channels are involved in the renal fibrosis process, understanding the mechanisms of ion channel transport and the complex network of signaling cascades between them is essential to identify potential therapeutic approaches to slow down renal fibrosis. This review summarizes the current work of ion channels in renal fibrosis. We pay close attention to the effect of cystic fibrosis transmembrane conductance regulator (CFTR), transmembrane Member 16A (TMEM16A) and other Cl- channel mediated signaling pathways and ion concentrations on fibrosis, as well as the various complex mechanisms for the action of Ca2+ handling channels including Ca2+-release-activated Ca2+ channel (CRAC), purinergic receptor, and transient receptor potential (TRP) channels. Furthermore, we also focus on the contribution of Na+ transport such as epithelial sodium channel (ENaC), Na+, K+-ATPase, Na+-H+ exchangers, and K+ channels like Ca2+-activated K+ channels, voltage-dependent K+ channel, ATP-sensitive K+ channels on renal fibrosis. Proposed potential therapeutic approaches through further dissection of these mechanisms may provide new therapeutic opportunities to reduce the burden of chronic kidney disease.

PMID:36277193 | PMC:PMC9581181 | DOI:10.3389/fphys.2022.1019028

Front Immunol. 2022 Oct 6;13:1029423. doi: 10.3389/fimmu.2022.1029423. eCollection 2022.

ABSTRACT

Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1 (STING1) gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI). Previously, only heterozygous and mostly de novo STING1 variants have been reported to cause SAVI. Interestingly, one variant that only leads to SAVI when homozygous, namely c.841C>T p.(Arg281Trp), has recently been described. However, there are no entries in public databases regarding an autosomal recessive pattern of inheritance. Here, we report four additional unrelated SAVI patients carrying c.841C>T in homozygous state. All patients had interstitial lung disease and displayed typical interferon activation patterns. Only one child displayed cutaneous vasculitis, while three other patients presented with a relatively mild SAVI phenotype. Steroid and baricitinib treatment had a mitigating effect on the disease phenotype in two cases, but failed to halt disease progression. Heterozygous c.841C>T carriers in our analysis were healthy and showed normal interferon activation. Literature review identified eight additional cases with autosomal recessive SAVI caused by c.841C>T homozygosity. In summary, we present four novel and eight historic cases of autosomal recessive SAVI. We provide comprehensive clinical data and show treatment regimens and clinical responses. To date, SAVI has been listed as an exclusively autosomal dominant inherited trait in relevant databases. With this report, we aim to raise awareness for autosomal recessive inheritance in this rare, severe disease which may aid in early diagnosis and development of optimized treatment strategies.

PMID:36275728 | PMC:PMC9583393 | DOI:10.3389/fimmu.2022.1029423

Front Psychol. 2022 Oct 7;13:937189. doi: 10.3389/fpsyg.2022.937189. eCollection 2022.

ABSTRACT

Individuals with cystic fibrosis (CF) are at high risk for depression and anxiety, with negative consequences for health and quality of life. Cystic Fibrosis Foundation/European Cystic Fibrosis Society guidelines recommend routine screening, treatment, and preventative efforts. Cognitive-behavioral therapy (CBT) has a large evidence-base for depression/anxiety prevention and treatment. However, traditional CBT protocols require adaptation to address the emotional challenges of coping with CF, stressors related to disease management, and barriers to access to care. The goal of this study was to partner with the CF community to develop an innovative CBT-based intervention for the prevention and treatment of depression and anxiety tailored to CF-specific needs. In-depth feedback was collected via audio-recorded telephone interviews with 16 adults with CF from 3 U.S. CF centers, with purposive sampling across gender, age, ethnicity, and disease severity. A semi-structured interview guide elicited discussion of patient experiences of coping with CF, and perspectives on the acceptability of the content, structure, and delivery model of the proposed intervention. Qualitative analysis utilized a content analytic approach. Participants ranged from 21 to 53 years (M = 35); eight were female; three were Hispanic. Patient-reported most recent FEV1, a measure of lung function based on forced expiratory volume in in one second, ranged from 25 to 113% predicted (M = 72). One participant was post-double lung transplant. Qualitative interviews were analyzed thematically revealing core themes related to the experience of coping with CF. The most frequently cited CF-related stressors were Treatment Burden, Illness Uncertainty, and Financial/Insurance Stress. Participants talked about the interaction of physical symptoms and emotional distress in their daily lives, a topic not typically discussed in routine CF care. Resilience was also a major theme with participants describing strategies they use to cope with CF and hospitalizations. Description of patients' experiences was incorporated into the program's intervention manual and patient workbook. Participants also provided direct feedback on the proposed program. Feedback was largely positive regarding program content and structure, suggesting the acceptability of a CF-specific CBT-based intervention for adults with CF. Features to increase accessibility of care including telehealth, inpatient delivery, and team-based care were perceived as advantageous, and participants emphasized the value of a CF-specific mental health intervention. Qualitative findings directly informed the development of CF-CBT, a cognitive-behavioral skills-based program to promote emotional well-being for adults with CF.

PMID:36275208 | PMC:PMC9585970 | DOI:10.3389/fpsyg.2022.937189

Front Pediatr. 2022 Oct 5;10:974363. doi: 10.3389/fped.2022.974363. eCollection 2022.

ABSTRACT

BACKGROUND: Current bronchiectasis management guidelines recommend regular physical activity but a large proportion of children with bronchiectasis do not meet public health recommendations which call for 60 min or more of moderate-to-vigorous intensity physical activity daily. Knowing the factors that influence physical activity in children with bronchiectasis is necessary for the development of effective interventions to increase physical activity in this patient group. The objective of this study was to identify facilitators and barriers to physical activity in children with bronchiectasis unrelated to cystic fibrosis (CF) from the perspectives of children and their parents.

MATERIALS AND METHODS: This was a qualitative study informed by the theoretical domains framework (TDF). Children aged 7-15 years (8.8 years, 8.4-11.0) (median, interquartile range) and parents (45.8 years, 39.7-48.3) completed separate, semi-structured interviews (n = 21). Recordings were transcribed verbatim, and barriers and facilitators related to each TDF domain deductively coded. Emergent themes were inductively derived via consensus moderation.

RESULTS: From the perspectives of children, fun with friends, organized sport and activities, and family co-participation in physical activity emerged as facilitators. Inability to keep up with their peers and time on technology emerged as barriers. From the perspectives of parents, instrumental and logistic support for physical activity and supportive social and physical activity environments emerged as facilitators, while management of symptoms associated with bronchiectasis emerged as a barrier.

CONCLUSION: Programs to increase physical activity in children with bronchiectasis should be fun, accessible, provide opportunities for social interaction and address barriers related to exercise tolerance, perceived competence, and presence of respiratory symptoms.

PMID:36275072 | PMC:PMC9579271 | DOI:10.3389/fped.2022.974363

Respir Med. 2022 Sep 30;204:107002. doi: 10.1016/j.rmed.2022.107002. Online ahead of print.

ABSTRACT

BACKGROUND: Proteomics can reveal molecular pathways of disease and provide translational perspectives to inform clinical decision making. Although several studies have previously reported the cystic fibrosis airway proteome, the relationship with severity of lung disease has not been characterised. The objectives of this observational study were to investigate differences in the CF sputum proteome associated with disease severity and identify potential markers of disease with translational potential.

METHODS: Sputum samples from healthy volunteers and cystic fibrosis subjects (some prescribed modulator therapies) were analysed using liquid-chromatography tandem mass spectrometry. Severity of lung disease was based on baseline spirometry (percentage predicted forced expiratory volume in 1 s, FEV1%).

RESULTS: Multiple sputum proteins (108 increased; 202 decreased) were differentially expressed in CF (n = 38) and healthy volunteers (n = 32). Using principal component analysis and hierarchical clustering, differences in sputum proteome were observed associated with progressive lung function impairment. In CF subjects, baseline FEV1% correlated with 87 proteins (positive correlation n = 20, negative n = 67); most were either neutrophil derived, or opposed neutrophil-driven oxidant and protease activity.

CONCLUSION: Predictable and quantifiable changes in the CF sputum proteome occurred associated with progressive lung function impairment, some of which might have value as markers of disease severity in CF sputum. Further work validating these markers in other patient cohorts and exploring their clinical utility is needed.

PMID:36274446 | DOI:10.1016/j.rmed.2022.107002

Pulmonology. 2022 Oct 20:S2531-0437(22)00219-7. doi: 10.1016/j.pulmoe.2022.08.009. Online ahead of print.

NO ABSTRACT

PMID:36274048 | DOI:10.1016/j.pulmoe.2022.08.009

Pulmonology. 2022 Oct 21:S2531-0437(22)00222-7. doi: 10.1016/j.pulmoe.2022.09.009. Online ahead of print.

NO ABSTRACT

PMID:36274045 | DOI:10.1016/j.pulmoe.2022.09.009

J Mycol Med. 2022 Aug 7;33(1):101326. doi: 10.1016/j.mycmed.2022.101326. Online ahead of print.

ABSTRACT

INTRODUCTION: The clinical spectrum of Aspergillus fumigatus diseases in cystic fibrosis (CF) patients, including allergic bronchopulmonary aspergillosis (ABPA) and Aspergillus fumigatus chronic colonization, has recently gained attention due to its association with the progression of lung disease. Our aim was to examine whether there is a difference on pathogenic variant frequencies of the CFTR gene between CF patients with ABPA and those with A. fumigatus chronic colonization.

MATERIAL AND METHODS: Greek CF patients diagnosed with ABPA and/or A. fumigatus chronic colonization were grouped according to their CFTR genotype. Patients with "minimal" CFTR function were defined as carrying a combination of class I or II pathogenic variants, while patients with "residual" function as carrying at least one class III, IV, V or VI pathogenic variant.

RESULTS: Fifty-four CF patients were included and all except one were defined as having "minimal" CFTR function. Among the 108 CFTR alleles, 69 (63.9%) of pathogenic variants belonged to class II, and 32 (29.6%) to class I. Five patients had a history of both ABPA and A. fumigatus chronic colonization. No significant difference was detected among patients diagnosed only with ABPA (n = 29) and those who had only a positive history of A. fumigatus chronic colonization (n = 20). The median age of ABPA diagnosis was significantly lower than the median age of A. fumigatus chronic colonization (P = 0.011), while no significant difference was detected on median FEV1% predicted.

DISCUSSION: No significant differences were detected in the type of CFTR pathogenic variants among patients with ABPA and those with A. fumigatus colonization. Similar studies should be performed in larger CF populations of different ethnic origin to further confirm our results.

PMID:36272381 | DOI:10.1016/j.mycmed.2022.101326

Mol Microbiol. 2022 Oct;118(4):321-335. doi: 10.1111/mmi.14972. Epub 2022 Aug 15.

ABSTRACT

Pseudomonas aeruginosa is an opportunistic bacterial pathogen that often encounters hypoxic/anoxic environments within the host, which increases its tolerance to many conventional antibiotics. Toward identifying novel treatments, we explored the therapeutic potential of chlorate, a pro-drug that kills hypoxic/anoxic, antibiotic-tolerant P. aeruginosa populations. While chlorate itself is relatively nontoxic, it is enzymatically reduced to the toxic oxidizing agent, chlorite, by hypoxically induced nitrate reductase. To better assess chlorate's therapeutic potential, we investigated mechanisms of chlorate toxicity and resistance in P. aeruginosa. We used transposon mutagenesis to identify genes that alter P. aeruginosa fitness during chlorate treatment, finding that methionine sulfoxide reductases (Msr), which repair oxidized methionine residues, support survival during chlorate stress. Chlorate treatment leads to proteome-wide methionine oxidation, which is exacerbated in a ∆msrA∆msrB strain. In response to chlorate, P. aeruginosa upregulates proteins involved in a wide range of functions, including metabolism, DNA replication/repair, protein repair, transcription, and translation, and these newly synthesized proteins are particularly vulnerable to methionine oxidation. The addition of exogenous methionine partially rescues P. aeruginosa survival during chlorate treatment, suggesting that widespread methionine oxidation contributes to death. Finally, we found that mutations that decrease nitrate reductase activity are a common mechanism of chlorate resistance.

PMID:36271736 | DOI:10.1111/mmi.14972

Sci Rep. 2022 Oct 21;12(1):17669. doi: 10.1038/s41598-022-21851-8.

ABSTRACT

The determination of hormonal biomarkers is of increasing interest in many diseases, including cystic fibrosis (CF). Hormones that have not been estimated and described so far in CF include kisspeptin (KISS) and proopiomelanocortin (POMC), which are involved in the regulation of many processes, including appetite and fertility. Therefore, the aim of our study was to estimate the level of KISS and POMC in sera from CF patients and to determine the correlation between these hormones and clinical parameters. For this purpose, we estimated the levels of KISS and POMC in 38 CF patients and 16 healthy participants with enzyme-linked immunosorbent assay. We found significantly reduced levels of KISS and POMC in people with CF compared to healthy subjects (1.76 ± 0.46 vs. 2.27 ± 0.56 ng/mL, p < 0.05 and 6.25 ± 4.36 vs. 14.74 ± 6.24 ng/mL, p < 0.001, respectively). Furthermore, the level of both hormones was negatively correlated with age. The hormones studied did not correlate with the results of spirometry and each other. Thus, decreased KISS and POMC levels may be associated with lower body weight and delayed puberty in patients with CF.

PMID:36271282 | DOI:10.1038/s41598-022-21851-8

J Cyst Fibros. 2022 Oct 18:S1569-1993(22)01387-X. doi: 10.1016/j.jcf.2022.10.005. Online ahead of print.

ABSTRACT

In this review, we summarize the main points that were raised and highlighted during the pre-conference meeting to the 17th European Cystic Fibrosis Society Basic Science Conference, held from 30 March to 2 April, 2022 in Albufeira, Portugal. Keynote lectures provided an update on the latest information regarding the phenomenon of antimicrobial resistance (AMR) in cystic fibrosis (CF). Traditional themes such as in vitro antibiotic susceptibility testing and its clinical value, AMR evolution in persistent Pseudomonas aeruginosa infection and the impact of biofilm on AMR were discussed. In addition, the report gives an overview on very recent AMR-related topics that include an ecological view of AMR in CF lung, referred to as resistome, and novel anti-infective approaches in preclinical or early clinical research such as antibiofilm drugs and bacteriophages.

PMID:36270946 | DOI:10.1016/j.jcf.2022.10.005

Nutr Clin Pract. 2022 Oct 21. doi: 10.1002/ncp.10923. Online ahead of print.

NO ABSTRACT

PMID:36268889 | DOI:10.1002/ncp.10923

Ann Med Surg (Lond). 2022 Sep 13;82:104642. doi: 10.1016/j.amsu.2022.104642. eCollection 2022 Oct.

ABSTRACT

INTRODUCTION AND IMPORTANCE: In children, acute recurrent pancreatitis is attributed to pancreato-biliary anomalies, hereditary pancreatitis and cystic fibrosis. Pancreatic divisum is a common congenital ductal anomaly that leads to recurrence of pancreatitis.

CASE PRESENTATION: A 13 years old female presented with clinical features of acute recurrent pancreatitis. After ruling out common causes, magnetic resonance cholangiopancreatography was done which showed pancreatic divisum. Her symptoms resolved following duodenum preserving pancreatic head resection.

DISCUSSION: Acute recurrent pancreatitis is attributed to raised intrapancreatic dorsal ductal pressure due to ductal anomalies especially pancreatic divisum (PD). It is the embryological failure in the fusion of the dorsal and ventral ductal system. PD is further classified into a classical subtype where there is complete failure of ductal fusion and an incomplete subtype where there is partial fusion of the ductal system. The diagnosis is commonly done through abdominal imaging with secretin enhanced magnetic resonance cholangiopancreatography being the choice of imaging modality. The initial approach is endoscopic intervention unless patients present with signs of pancreatic fibrosis where a duodenum preserving pancreatic head resection can be carried out.

CONCLUSION: A keen suspicion should be given towards anatomical or structural variants in absence of common etiologies. Early identification and management of pancreatic divisum prevents the recurrence of pancreatitis.

PMID:36268436 | PMC:PMC9577615 | DOI:10.1016/j.amsu.2022.104642

ERJ Open Res. 2022 Oct 17;8(4):00280-2022. doi: 10.1183/23120541.00280-2022. eCollection 2022 Oct.

ABSTRACT

Two case reports show lack of Pseudomonas aeruginosa transmission, despite household contact, in non-cystic fibrosis bronchiectasis (NCFB). This supports evidence that in NCFB, P. aeruginosa is poorly transmitted. This affects management strategies. https://bit.ly/3PeOcHy.

PMID:36267893 | PMC:PMC9574551 | DOI:10.1183/23120541.00280-2022

Ann Transl Med. 2022 Sep;10(18):992. doi: 10.21037/atm-22-4042.

ABSTRACT

BACKGROUND: Elevated expression of human epididymis protein 4 (HE4) was previously described in connective tissue disease-associated interstitial lung diseases (CTD-ILDs) and cystic fibrosis (CF), but the clinical significance of HE4 has remained unknown in idiopathic pulmonary fibrosis (IPF), which is a progressive fibrosing ILD with a heterogeneous course that is in urgent need of reliable biomarkers in its clinical practice.

METHODS: A total of 27 IPF patients with acute exacerbation status (AE-IPF), 32 IPF patients with stable status (S-IPF), and 29 sex-age matched healthy controls were retrospectively included. The levels of serum HE4 and Krebs von den Lungen-6 (KL-6) of the 3 cohorts were measured. In addition, the pulmonary expression of HE4 was evaluated in lung transplant specimens of IPF using immunohistochemistry and Western blot, and noncancerous lung tissue resected from early-stage lung cancer patients as controls. The endpoint of follow-up was March 1st, 2022, and the Cox regression model was used to analyze the prognostic value of HE4.

RESULTS: The levels of HE4 and KL-6 were obviously elevated in AE-IPF patients compared to S-IPF (296.4 vs. 178.1 pmol/L for HE4, P<0.001; 2,007.0 vs. 990.5 IU/mL for KL-6, P<0.001) or healthy controls (296.4 vs. 51.8 pmol/L for HE4, P<0.001; 2,007.0 vs. 181.0 IU/mL for KL-6, P<0.001). Significant correlations were observed between serum HE4 levels and percent predicted diffusing capacity of the lung for carbon monoxide (DLCO%) (r=-0.526, P<0.001), percent predicted forced vital capacity (FVC%) (r=-0.344, P=0.024), gender-age-physiology (GAP) index (r=0.535, P<0.001), and oxygenation index (r=-0.550, P<0.001) in IPF patients. In histological analysis, overexpression of HE4 in mucosal epithelium of dilated bronchi was observed in IPF patients compared with controls. Multivariate cox regression revealed that serum levels of HE4 [hazard ratio (HR) =1.004, P=0.042] and GAP index (HR =1.374, P=0.010) were associated with worse survival in IPF patients.

CONCLUSIONS: The expression of serum HE4 was obviously elevated in IPF patients, especially in AE-IPF patients. In addition, serum HE4 could be utilized as a biomarker of disease severity and poor prognosis of IPF patients. These findings warrant further validation in larger, multi-center, and longitudinal cohorts.

PMID:36267722 | PMC:PMC9577718 | DOI:10.21037/atm-22-4042

Open Forum Infect Dis. 2022 Sep 11;9(10):ofac465. doi: 10.1093/ofid/ofac465. eCollection 2022 Oct.

ABSTRACT

BACKGROUND: Mycobacterium abscessus infections remain difficult to manage in both cystic fibrosis (CF) and non-CF patients and reported clinical outcomes are largely unsatisfactory. Clinical trial data are limited and no approved therapies are currently available for the management of M abscessus lung diseases. As an alternative, cohort studies may provide insightful information into the management of M abscessus pulmonary disease.

METHODS: Based on a retrospective observational cohort study, we investigated the safety and efficacy of amikacin liposome inhaled suspension (ALIS) as an adjunct to a standard antibiotic regimen for M abscessus lung infection in both CF and non-CF patients. We also assessed the association of patient drug compliance with culture conversion and clinical outcomes.

RESULTS: Twenty-six patients had long-term follow-up data available. Culture conversion was achieved in 54% (14/26) of the patients with no difference between CF and non-CF patients after an average treatment duration of 10 months. Patient treatment compliance was significantly better in the converter group compared to nonconverters with an odds ratio of 44.78 associated with good compared to poor patient compliance. Overall, 9 patients (35%) experienced an adverse event that led to treatment discontinuation.

CONCLUSIONS: ALIS appears beneficial in both CF and non-CF populations with M abscessus lung disease.

PMID:36267258 | PMC:PMC9578164 | DOI:10.1093/ofid/ofac465

J Clin Transl Endocrinol. 2022 Oct 5;30:100308. doi: 10.1016/j.jcte.2022.100308. eCollection 2022 Dec.

ABSTRACT

Progressive obstructive pulmonary disease is the primary life-shortening complication in people with Cystic Fibrosis (CF); improvement in life expectancy has led to increased prevalence of non-pulmonary complications. Patients with CF are considered to be at low risk for coronary artery disease (CAD). We report here a case series of six patients with CF with and without known cystic fibrosis related diabetes (CFRD) who had acute myocardial infarction (AMI) requiring coronary stent placement. This was a heterogeneous group of patients, without a clear pattern of consistent risk factors. Interestingly, most patients in this cohort had low LDL. In this review, we discuss risk factors of cardiovascular disease (CVD) that may apply to the CF population. While CAD is rare in people with CF, it does occur. We postulate that the risk will grow with increased longevity and the increased prevalence of co-morbidities such as obesity and dyslipidemia.

PMID:36267108 | PMC:PMC9576554 | DOI:10.1016/j.jcte.2022.100308

BMC Pharmacol Toxicol. 2022 Oct 20;23(1):80. doi: 10.1186/s40360-022-00624-z.

ABSTRACT

BACKGROUND: Lumacaftor/Ivacaftor (LUM-IVA), a cystic fibrosis transmembrane conductance regulator (CFTR) protein corrector-potentiator combination, improves lung function and reduces pulmonary exacerbations (PEx) in F508del homozygous CF patients. However, the systemic effects of LUM-IVA outside the respiratory system have not yet been thoroughly investigated.

METHODS: A prospective, real-world, yearlong study was performed on F508del homozygous adult CF patients who commenced treatment with LUM-IVA. Pancreatic function, bone metabolism, fertility status, nutritional and pulmonary factors were evaluated.

RESULTS: Twelve patients, mean age 28.3 years (18.6-43.9) were recruited. Following 12 months of treatment, no changes were detected in glucose, insulin, c-peptide or BMI values. A significant relative decrease in mean alkaline-phosphatase levels (122.8 U/L vs 89.4, p = 0.002) and a trend toward an increase in calcium levels (9.5 vs 9.9 mg/dL, p = 0.074) were observed. A non-significant improvement in mean DEXA spine t-score after a year of treatment (-2.1 vs -1.6, n = 4, p = 0.11) was detected. Sweat chloride concentrations decreased significantly (-21.4 mEq/L; p = 0.003). Pulmonary outcome revealed improvement in spirometry values during the first three months (FEV1 by 5.7% p = 0.009, FEF25-75 by 4.3% p = 0.001) with no change in chest CT Bhalla score and CFQR after one year. There was also a significant decrease in parenteral antibiotic events (17 vs 8, p = 0.039) with shift from IV to oral antibiotics for PEx treatment.

CONCLUSIONS: After one year of treatment, stabilization was observed in the pancreatic indices, nutritional status, structure and function of the lungs, with a beneficial effect on bone mineral metabolism and CFTR function. Additional studies should investigate the effect of CFTR modulators on extra-pulmonary manifestations.

PMID:36266606 | DOI:10.1186/s40360-022-00624-z

Otolaryngol Clin North Am. 2022 Oct 17:S0030-6665(22)00132-3. doi: 10.1016/j.otc.2022.09.010. Online ahead of print.

ABSTRACT

The unified airway concept is a framework for the understanding and management of the upper and lower airways as one integrated physiologic unit. The sinonasal and bronchopulmonary systems have an interdependent physiologic function, and inflammatory conditions that impact one system tend to impact the other similarly. The application of the unified airway concept in the pediatric population is not well described. This study identifies and characterizes the common manifestations of the pediatric unified airway, including pediatric chronic rhinosinusitis, adenoid disease, asthma, cystic fibrosis, and primary ciliary dyskinesia.

PMID:36266109 | DOI:10.1016/j.otc.2022.09.010

Otolaryngol Clin North Am. 2022 Oct 17:S0030-6665(22)00131-1. doi: 10.1016/j.otc.2022.09.009. Online ahead of print.

ABSTRACT

Cystic fibrosis (CF) is a genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR channel is responsible for the transport of the anions (chloride and bicarbonate) across airway epithelia. Patients with CF have thick mucus, disrupted mucociliary transport, and chronic bacterial infections in the upper and lower airways. In this article, the pathophysiology of CFTR dysfunction and its impact on the united airway are reviewed as well as the treatment strategies for patients with chronic rhinosinusitis-related CF and acquired CFTR dysfunction.

PMID:36266104 | DOI:10.1016/j.otc.2022.09.009