Front Endocrinol (Lausanne). 2021 Apr 29;12:673539. doi: 10.3389/fendo.2021.673539. eCollection 2021.

ABSTRACT

Cystic fibrosis related diabetes (CFRD) is a comorbidity of cystic fibrosis (CF) that negatively impacts on its clinical course. Prediabetes is an important predictor of either CFRD development and unfavorable prognosis of CF in both pediatric and adult patients. International guidelines recommend insulin only in case of CFRD diagnosis. Whether early detection and treatment of prediabetes may contribute to improve the clinical course of CF is still debated. A subgroup of pediatric diabetologists of the Italian Society for Pediatric Endocrinology and Diabetology (ISPED) performed a systematic review of the literature based on predefined outcomes: impact of pre-diabetes on clinical outcomes and on the risk of developing CFRD; diagnosis of diabetes and pre-diabetes under 10 years of age; effectiveness of therapy on glycemic control, impact of therapy on pulmonary function and nutritional status. Thirty-one papers were selected for the analysis data presented in these papers were reported in tables sorted by outcomes, including comprehensive evidence grading according to the GRADE approach. Following the grading of the quality of the evidence, the entire ISPED diabetes study group achieved consensus for the Italian recommendations based on both evidence and clinical experience. We concluded that in patients with CF, prediabetes should be carefully considered as it can evolve into CFRD. In patients with CF and prediabetic conditions, after complete evaluation of the OGTT trend, glucometrics, glycemic values measured during pulmonary exacerbations and/or steroid therapy, early initiation of insulin therapy could have beneficial effects on clinical outcomes of patients with CF and prediabetes.

PMID:34017312 | PMC:PMC8130616 | DOI:10.3389/fendo.2021.673539

Pancreas. 2021 May 19. doi: 10.1097/MPA.0000000000001815. Online ahead of print.

ABSTRACT

OBJECTIVES: We hypothesized that hospitalizations in cystic fibrosis (CF) would reflect the development of age-related comorbidities.

METHODS: A retrospective analysis was performed using the Nationwide Inpatient Sample (2002-2017). Hospitalizations for which the principal diagnosis was CF were analyzed regarding age at discharge and presence of comorbidities. Trends were assessed for significance using the Cochran-Armitage test.

RESULTS: The mean age of patients hospitalized for CF increased from 19.7 years in 2002 to 23.0 years in 2017 (P = 0.017). Several comorbidities are more than 10 times more prevalent among adults as compared with children, including congestive heart failure, substance abuse, and chronic kidney disease (P < 0.001). In addition, diabetes with chronic complications was more prevalent in adults than children (10.0% vs 3.9%; P < 0.001), as was hypertension (7.2% vs 1.3%; P < 0.001) and osteoporosis (10.2% vs 1.9%; P < 0.001). More than 65% of CF hospitalizations in 2017 were in individuals older than 18 years.

CONCLUSIONS: Hospitalizations for adults with CF are increasing, and individuals with CF are developing age-related comorbidities. Providers equipped to manage the health care needs of adults need to be ready and able to care for this unique and growing patient population.

PMID:34016889 | DOI:10.1097/MPA.0000000000001815

J Pediatr Gastroenterol Nutr. 2021 May 11. doi: 10.1097/MPG.0000000000003168. Online ahead of print.

ABSTRACT

Transient elastography is an imaging technique utilizing shear wave technology to measure liver stiffness. Recent studies have shown success in utilizing this technique in children. Transient elastography is useful in estimating degree of fibrosis in various pediatric liver diseases, including biliary atresia, alpha-1-antitrypsin deficiency, Alagille syndrome, cystic fibrosis related liver disease, and NASH among others. However, confounding factors may affect elastography measurements such as obesity, severe inflammation, non-fasting state and hepatic congestion and should be considered when interpreting these measurements. Future studies will correlate liver stiffness on transient elastography and severity of disease.

PMID:34016882 | DOI:10.1097/MPG.0000000000003168

J Pediatr Gastroenterol Nutr. 2021 May 18. doi: 10.1097/MPG.0000000000003173. Online ahead of print.

ABSTRACT

OBJECTIVES: To identify factors that increase risk of gastrointestinal-related (GI-related) hospitalization of infants with cystic fibrosis (CF) during the first year of life.

METHODS: The Baby Observational and Nutrition Study was a longitudinal, observational cohort of 231 infants diagnosed with CF by newborn screening. We performed a post-hoc assessment of the frequency and indications for GI-related admissions during the first year of life.

RESULTS: Sixty-five participants had at least one admission in the first 12 months of life. High pancreatic enzyme replacement therapy (PERT) dosing (>2000 LU/kg/meal) (hazard ratio, HR = 14.75, p = 0.0005) and use of acid suppressive medications (HR = 4.94, p = 0.01) during the study period were positively associated with subsequent GI-related admissions. High levels of fecal calprotectin (fCP) (>200 μg/g) and higher relative abundance of fecal Klebsiella pneumoniae were also positively associated with subsequent GI-related admissions (HR = 2.64, p = 0.033 and HR = 4.49, p = 0.002, respectively). During the first 12 months of life, participants with any admission had lower weight-for-length z-scores (WLZ) (p = 0.01). The impact of admission on WLZ was particularly evident in participants with a GI-related admission (p < 0.0001).

CONCLUSIONS: Factors associated with higher risk for GI-related admission during the first 12 months include high PERT dosing, exposure to acid suppressive medications, higher fCP levels, and/or relative abundance of fecal Klebsiella pneumoniae early in life. Infants with CF requiring GI-related hospitalization had lower WLZ at 12 months of age than those not admitted as well as those admitted for non GI-related indications.

PMID:34016873 | DOI:10.1097/MPG.0000000000003173

Microbiol Resour Announc. 2021 May 20;10(20):e00402-21. doi: 10.1128/MRA.00402-21.

ABSTRACT

Burkholderia gladioli is known to cause respiratory tract infections in cystic fibrosis patients. Here, we describe the annotation of the 38,038-bp genome sequence of Mana, a P2-like phage of B. gladioli Understanding the genomic characteristics of phages infecting pathogens like B. gladioli can lead to advancements in phage therapy.

PMID:34016684 | DOI:10.1128/MRA.00402-21

BMJ Case Rep. 2021 May 20;14(5):e240448. doi: 10.1136/bcr-2020-240448.

ABSTRACT

We present to you a case of life-threatening haemoptysis secondary to non-cystic fibrosis bronchiectasis complicated by bronchial artery pseudoaneurysms. We discuss this patient's emergency medical management using intravenous tranexamic acid, which resulted in successful resuscitation and eventual survival, and evaluate the need for urgent anaesthetic and interventional radiology input in such a case.

PMID:34016628 | DOI:10.1136/bcr-2020-240448

Eur Respir J. 2021 May 20:2004474. doi: 10.1183/13993003.04474-2020. Online ahead of print.

ABSTRACT

BACKGROUND: Influenza epidemics were initially considered to be a suitable model for the COVID-19 epidemic, but there is a lack of data concerning patients with chronic respiratory diseases (CRD), who were supposed to be at risk of severe forms of COVID-19.

METHODS: This nationwide retrospective cohort study describes patients with prior lung disease hospitalised for COVID-19 (March-April 2020) or influenza (2018-2019 influenza outbreak). We compare the resulting pulmonary complications, need for intensive care and in-hospital mortality depending on respiratory history and virus.

RESULTS: In the 89 530 COVID-19 cases, 16.03% had at least one CRD, which was significantly less frequently than in the 45 819 seasonal influenza patients. Patients suffering from chronic respiratory failure, chronic obstructive pulmonary disease, asthma, cystic fibrosis and pulmonary hypertension were underrepresented, contrary to those with lung cancer, sleep apnea, emphysema, and interstitial pulmonary diseases (ILD). COVID-19 patients with CRD developed significantly more ventilator-associated pneumonia and pulmonary embolism than influenza patients. They needed intensive care significantly more often and had a higher mortality rate (except for asthma) when compared to patients with COVID-19 but without CRD, or patients with influenza.

CONCLUSION: Patients with prior respiratory diseases were globally less likely to be hospitalised for COVID-19 than for influenza but were at higher risk of developing severe COVID-19 and had a higher mortality rate compared to influenza patients and patients without a history of respiratory illness.Our data suggest that these patients should have priority access to SARS-CoV2 vaccination.

PMID:34016619 | DOI:10.1183/13993003.04474-2020

J Cyst Fibros. 2021 May 17:S1569-1993(21)00112-0. doi: 10.1016/j.jcf.2021.04.002. Online ahead of print.

ABSTRACT

BACKGROUND: Early diagnosis via newborn screening is crucial to improve clinical outcomes in patients with cystic fibrosis (CF). In resource-limited areas where newborn screening is unavailable and CF-related morbidity is high, clinical tools such as palmar aquagenic wrinkling (AW) have been considered. We report the utility of AW for possible early identification of CF in children <2 years old.

METHODS: This pilot case-control study included 55 total children, 20 with confirmed CF, 10 CF carriers, and 25 healthy controls. The time to wrinkling (TTW) after hand immersion in water was recorded, and relationships between TTW, demographic and clinical variables, and validated diagnostic tests were analyzed.

RESULTS: Wrinkling was observed in children <2 years of age, and median TTW was significantly lower among those with CF (3 min) compared to carriers or healthy controls (12 and 14 min, respectively). Higher immunoreactive trypsinogen and sweat chloride levels were associated with lower TTW (p < 0.001). In this predominantly Caucasian cohort, children with F508del had the lowest TTW. Six minutes of hand immersion offered a sensitivity of 85% and a specificity of 91%, suggesting a practical and effective test duration for this age. There was no evidence that nutritional status affected TTW.

CONCLUSION: Our data confirm the role of AW in CF, validate test utility among young children, and analyze relationships between TTW, immunoreactive trypsinogen, sweat chloride levels, and CF-causing mutations. Despite test limitations, in children with suspected CF from non-screened populations, utility of AW in enabling early referral and diagnosis needs further exploration.

PMID:34016560 | DOI:10.1016/j.jcf.2021.04.002

J Cyst Fibros. 2021 Apr 18:S1569-1993(21)00099-0. doi: 10.1016/j.jcf.2021.03.017. Online ahead of print.

ABSTRACT

BACKGROUND: Viral infections can cause significant morbidity in cystic fibrosis (CF). The current Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic could therefore have a serious impact on the health of people with CF (pwCF).

METHODS: We used the 38-country European Cystic Fibrosis Society Patient Registry (ECFSPR) to collect case data about pwCF and SARS-CoV-2 infection.

RESULTS: Up to 30 June 2020, 16 countries reported 130 SARS-CoV-2 cases in people with CF, yielding an incidence of 2.70/1000 pwCF. Incidence was higher in lung-transplanted patients (n=23) versus non-transplanted patients (n=107) (8.43 versus 2.36 cases/1000). Incidence was higher in pwCF versus the age-matched general population in the age groups <15, 15-24, and 25-49 years (p<0.001), with similar trends for pwCF with and without lung transplant. Compared to the general population, pwCF (regardless of transplantation status) had significantly higher rates of admission to hospital for all age groups with available data, and higher rates of intensive care, although not statistically significant. Most pwCF recovered (96.2%), however 5 died, of whom 3 were lung transplant recipients. The case fatality rate for pwCF (3.85%, 95% CI: 1.26-8.75) was non-significantly lower than that of the general population (7.46%; p=0.133).

CONCLUSIONS: SARS-CoV-2 infection can result in severe illness and death for pwCF, even for younger patients and especially for lung transplant recipients. PwCF should continue to shield from infection and should be prioritized for vaccination.

PMID:34016559 | DOI:10.1016/j.jcf.2021.03.017

J Cyst Fibros. 2021 May 17:S1569-1993(21)00120-X. doi: 10.1016/j.jcf.2021.04.010. Online ahead of print.

ABSTRACT

BACKGROUND: Cystic fibrosis (CF) related diabetes is the most common comorbidity for CF patients and associated with islet dysfunction. Exocrine pancreas remodeling in CF alters the microenvironment in which islets reside. Since CFTR is mainly expressed in pancreatic ductal epithelium, we hypothesized altered CF ductal secretions could impact islet function through paracrine signals.

METHOD: We evaluated the secretome and cellular proteome of polarized WT and CF ferret ductal epithelia using quantitative ratiometric mass spectrometry. Differentially secreted proteins (DSPs) or expressed cellular proteins were used to mine pathways, upstream regulators and the CFTR interactome to map candidate CF-associated alterations in ductal signaling and phenotype. Candidate DSPs were evaluated for their in vivo pancreatic expression patterns and their functional impact on islet hormone secretion.

RESULTS: The secretome and cellular proteome of CF ductal epithelia was significantly altered relative to WT and implicated dysregulated TGFβ, WNT, and BMP signaling pathways. Cognate receptors of DSPs from CF epithelia were equally distributed among endocrine, exocrine, and stromal pancreatic cell types. IGFBP7 was a downregulated DSP in CF ductal epithelia in vitro and exhibited reduced CF ductal expression in vivo. IGFBP7 also altered WT islet insulin secretion in response to glucose. Many CFTR-associated proteins, including SLC9A3R1, were differentially expressed in the CF cellular proteome. Upstream regulators of the differential CF ductal proteome included TGFβ, PDX1, AKT/PTEN, and INSR signaling. Data is available via ProteomeXchange with identifier PXD025126.

CONCLUSION: These findings provide a proteomic roadmap for elucidating disturbances in autocrine and paracrine signals from CF pancreatic ducts and how they may alter islet function and maintenance.

PMID:34016558 | DOI:10.1016/j.jcf.2021.04.010

J Cyst Fibros. 2021 May 17:S1569-1993(21)00125-9. doi: 10.1016/j.jcf.2021.04.015. Online ahead of print.

ABSTRACT

BACKGROUND: Pseudomonas aeruginosa (PA) is an important respiratory pathogen for cystic fibrosis (CF) patients. Routine microbiology surveillance is time-consuming, and is best performed on expectorated sputum. As alternative, volatile organic compounds (VOCs) may be indicative of PA colonisation. In this study, we aimed to identify VOCs associated with PA in literature and perform targeted exhaled breath analysis to recognize PA positive CF patients non-invasively.

METHODS: This study consisted of 1) a literature review to select VOCs of interest, and 2) a cross-sectional CF study. Definitions used: A) PA positive, PA culture at visit/chronically; B) PA free, no PA culture in ≥12 months. Exhaled VOCs were identified via quadrupole MS. The primary endpoint was the area under the receiver operating characteristics curve (AUROCC) of individual VOCs as well as combined VOCs against PA culture.

RESULTS: 241 VOCs were identified in literature, of which 56 were further evaluated, and 13 could be detected in exhaled breath in our cohort. Exhaled breath of 25 pediatric and 28 adult CF patients, PA positive (n=16) and free (n=28) was available. 3/13 VOCs were significantly (p<0.05) different between PA groups in children; none were in adults. Notably, a composite model based on 5 or 1 VOC(s) showed an AUROCC of 0.86 (CI 0.71-1.0) and 0.87 (CI 0.72-1.0) for adults and children, respectively.

CONCLUSIONS: Targeted VOC analysis appears to discriminate children and adults with and without PA positive cultures with clinically acceptable sensitivity values.

PMID:34016557 | DOI:10.1016/j.jcf.2021.04.015

BMC Pulm Med. 2021 May 20;21(1):173. doi: 10.1186/s12890-021-01528-0.

ABSTRACT

BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and the development of life-threatening COVID-19 are believed to disproportionately affect certain at-risk populations. However, it is not clear whether individuals with cystic fibrosis (CF) are at a higher risk of COVID-19 or its adverse consequences. Recurrent respiratory viral infections are often associated with perturbation and pulmonary exacerbations of CF as evidenced by the significant morbidity observed in CF individuals during the 2009 H1N1 pandemic. The primary goal of this review was to systematically survey published accounts of COVID-19 in CF and determine if individuals with CF are disproportionally affected by SARS-CoV-2 and development of COVID-19.

METHODS: We conducted a systematic literature search using EMBASE and Medline between April 28 and December 10, 2020. Six evaluable studies reporting on a total of 339 individuals with CF who developed COVID-19 were included in this study.

RESULTS: We found that although individuals with CF generally experience acute exacerbations of lung disease from infectious agents, COVID-19 incidence estimates in CF appear to be lower than in the general population. However, there are reports of subsets of CF, such as those who had organ transplants, that may experience a more severe COVID-19 course. Potential protective mechanisms in the CF population include pre-pandemic social isolation practices, infection prevention and control knowledge, altered expression of angiotensin-converting enzyme, and the use of certain medications.

CONCLUSIONS: Although individuals with CF are at risk of acute exacerbations often precipitated by respiratory tract viral infections, published evidence to date indicated that individuals with CF do not experience higher risks of contracting SARS-CoV-2 infection. However, there is evidence that some subsets within the CF population, including those post-transplantation, may experience a more severe clinical course. As SARS-CoV-2 variants are identified and the pandemic goes through additional waves of disease outbreaks, ongoing monitoring of the risk of COVID-19 in individuals with CF is required.

PMID:34016096 | DOI:10.1186/s12890-021-01528-0

Nursing. 2021 Jun 1;51(6):38-39. doi: 10.1097/01.NURSE.0000754412.86118.a4.

NO ABSTRACT

PMID:34014875 | DOI:10.1097/01.NURSE.0000754412.86118.a4

Nursing. 2021 Jun 1;51(6):32-38. doi: 10.1097/01.NURSE.0000751344.57701.75.

ABSTRACT

Cystic fibrosis (CF) is an autosomal recessive genetic disorder that causes a lifetime of debilitating and life-threatening complications affecting the lungs and other organ systems. Over 1,700 gene mutations that cause this rare disorder have been identified. This article describes the current treatment landscape for adults with CF, including the 2019 FDA approval of a breakthrough triple-drug combination therapy that may significantly improve the quality of life for an estimated 90% of patients with CF.

PMID:34014874 | DOI:10.1097/01.NURSE.0000751344.57701.75

J Pharm Pract. 2021 May 20:8971900211018419. doi: 10.1177/08971900211018419. Online ahead of print.

ABSTRACT

BACKGROUND: Pharmacists routinely interpret and optimize tobramycin dosing for people with cystic fibrosis (PwCF).

OBJECTIVES: To determine the impact of tobramycin therapeutic drug monitoring (TDM) education on pharmacist dose recommendations, and to explore nurses' and medical doctors' perceptions toward pharmacist-led TDM charting.

METHODS: This study involved 3 phases: a 12-month retrospective audit of PwCF prescribed tobramycin to identify the appropriateness of pharmacists' dose recommendations, a pharmacist tobramycin educational intervention utilizing a voiceover presentation with pre- and post-online tobramycin TDM assessment (involving multiple choice pharmacokinetics and case-based scenario questions), and a cross-sectional survey of respiratory nurses' and doctors' perceptions toward pharmacist-led TDM charting. The pharmacists' dose recommendations, in the audit and case-based questions, were considered appropriate if subsequent levels achieved the targeted area under the curve (AUC).

RESULTS: Audit results revealed that 44.4% of the 277 pharmacist dose recommendations identified were appropriate. The pre- and post-interventional assessments were completed by 51 and 52 pharmacists, respectively. Post intervention, correct scores were significantly higher than pre-intervention, evident in both the pharmacokinetics (median score 75% vs 100%; P = 0.048) and case-based scenario (median score 60% vs 90%; P < 0.0001) questions. Of the 54 nurses and medical doctors surveyed, 92.6% supported the implementation of pharmacist-led tobramycin charting.

CONCLUSION: The study demonstrated an increased accuracy and appropriateness of pharmacists' tobramycin pharmacokinetics knowledge and TDM dose recommendations post-educational intervention and highlighted nurses' and medical doctors' support of pharmacist-led tobramycin TDM charting.

PMID:34013814 | DOI:10.1177/08971900211018419

Dev Cell. 2021 May 11:S1534-5807(21)00396-8. doi: 10.1016/j.devcel.2021.04.027. Online ahead of print.

ABSTRACT

Mucus-secreting goblet cells are the dominant cell type in pulmonary diseases, e.g., asthma and cystic fibrosis (CF), leading to pathologic mucus metaplasia and airway obstruction. Cytokines including IL-13 are the major players in the transdifferentiation of club cells into goblet cells. Unexpectedly, we have uncovered a previously undescribed pathway promoting mucous metaplasia that involves VEGFa and its receptor KDR. Single-cell RNA sequencing analysis coupled with genetic mouse modeling demonstrates that loss of epithelial VEGFa, KDR, or MEK/ERK kinase promotes excessive club-to-goblet transdifferentiation during development and regeneration. Sox9 is required for goblet cell differentiation following Kdr inhibition in both mouse and human club cells. Significantly, airway mucous metaplasia in asthmatic and CF patients is also associated with reduced KDR signaling and increased SOX9 expression. Together, these findings reveal an unexpected role for VEGFa/KDR signaling in the defense against mucous metaplasia, offering a potential therapeutic target for this common airway pathology.

PMID:34010630 | DOI:10.1016/j.devcel.2021.04.027

Am J Physiol Lung Cell Mol Physiol. 2021 May 19. doi: 10.1152/ajplung.00639.2020. Online ahead of print.

ABSTRACT

RATIONALE: In vitro biomarkers to assess Cystic Fibrosis Transmembrane Conductance Regulator activity are desirable for precision modulator selection and as a tool for clinical trials.

OBJECTIVES: We describe an organoid swelling assay derived from human nasal epithelia using commercially available reagents and equipment and an automated imaging process.

METHODS: Cells were collected in nasal brush biopsies, expanded in vitro, and cultured as spherical organoids or as monolayers. Organoids were used in a functional swelling assay with automated measurements and analysis, while monolayers were used for short-circuit current measurements to assess ion channel activity. Clinical data was collected from patients on modulators. Relationships between swelling data and short-circuit current, as well as between swelling data and clinical outcome measures, were assessed.

MAIN RESULTS: The organoid assay measurements correlate with short-circuit current measurements for ion channel activity. The functional organoid assay distinguished individual responses as well as differences between groups. The organoid assay distinguished incremental drug responses to modulator monotherapy with ivacaftor and combination therapy with ivacaftor, tezacaftor, and elexacaftor. The swelling activity paralleled clinical response.

CONCLUSIONS: An in vitro biomarker derived from patients' cells can be used to predict responses to drugs and is likely to be useful as a pre-clinical tool to aid in development of novel treatments, and as a clinical trial outcome measure for a variety of applications, including gene therapy or editing.

PMID:34009038 | DOI:10.1152/ajplung.00639.2020

Rev Col Bras Cir. 2021 May 17;48:e20202872. doi: 10.1590/0100-6991e-20202872. eCollection 2021.

ABSTRACT

OBJECTIVE: in Latin America, especially Brazil, the use of a robotic platform for thoracic surgery is gradually increasing in recent years. However, despite tuberculosis and inflammatory pulmonary diseases are endemic in our country, there is a lack of studies describing the results of robotic surgical treatment of bronchiectasis. This study aims to evaluate the surgical outcomes of robotic surgery for inflammatory and infective diseases by determining the extent of resection, postoperative complications, operative time, and length of hospital stay.

METHODS: retrospective study from a database involving patients diagnosed with bronchiectasis and undergoing robotic thoracic surgery at three hospitals in Brazil between January of 2017 and January of 2020.

RESULTS: a total of 7 patients were included. The mean age was 47 + 18.3 years (range, 18-70 years). Most patients had non-cystic fibrosis bronchiectasis (n=5), followed by tuberculosis bronchiectasis (n=1) and lung abscess (n=1). The performed surgeries were lobectomy (n=3), anatomic segmentectomy (n=3), and bilobectomy (n=1). The median console time was 147 minutes (range 61-288 min.) and there was no need for conversion to open thoracotomy. There were no major complications. Postoperative complications occurred in one patient and it was a case of constipation with the need for an intestinal lavage. The median for chest tube time and hospital stay, in days, was 1 (range, 1-6 days) and 5 (range, 2-14 days) respectively.

CONCLUSIONS: robotic thoracic surgery for inflammatory and infective diseases is a feasible and safe procedure, with a low risk of complications and morbidity.

PMID:34008797 | DOI:10.1590/0100-6991e-20202872

J Paediatr Child Health. 2021 May 19. doi: 10.1111/jpc.15571. Online ahead of print.

NO ABSTRACT

PMID:34008207 | DOI:10.1111/jpc.15571

Cureus. 2021 Apr 11;13(4):e14425. doi: 10.7759/cureus.14425.

ABSTRACT

Aquagenic wrinkling of the palms (AWP), also known as aquagenic palmoplantar keratoderma, is an uncommon dermatosis characterized by transient translucent whitish papules, edema, and hyper-wrinkling of the palms and soles shortly after water immersion. Approximately up to 80% of cases reported are associated with cystic fibrosis (CF) patients and up to 25% with CF carriers. We present the case of a 16-year-old male who complains of new-onset symmetrical edematous wrinkling on his palms associated with brief water exposure. After evaluation and genetic testing, the patient was diagnosed with CF and AWP. While there are numerous theories regarding the pathogenesis of AWP, no consensus has been reached regarding its etiology or relationship with CF. However, given the high prevalence of AWP associated with the genetic disease, physicians should have a high index of suspicion of CF or cystic fibrosis transmembrane regulator (CFTR)-related disease in pediatric patients with this presentation. The presence of AWP as part of the physical examination may help recognize challenging CF cases with uncommon genetic variants. Prompt recognition of CF disease leads to timely initiation of CFTR-modulating therapy, improving the patient's health outcomes and quality of life. In this case, we also present the patient's response to CFTR-modulating therapy and compare with baseline status.

PMID:34007735 | PMC:PMC8121091 | DOI:10.7759/cureus.14425