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OBJECTIVES: Congenital heart defects (CHDs) are among the most frequent congenital defects, and they significantly burden the healthcare system due to their high mortality rate and high cost of care for survivors. We aimed to highlight the incidence of CHDs in a tertiary center in Western Romania. METHODS: A retrospective study was carried out between 2018 and 2022 at the "Pius Brinzeu" Emergency County Hospital Timisoara. Relevant information about the mothers and the newborns were collected and statistically analyzed. RESULTS: The incidence of CHDs from 2018 to 2022 in our center was 5.3%. Eleven types of malformations were diagnosed postnatally in 541 newborns, with 28.8% of cases having more than one type of CHD. The antenatal detection rate was 28%, with the highest rates for tetralogy of Fallot, hypoplastic left heart syndrome, or significant ventricular septal defects and the lowest for pulmonary stenosis. The lower antenatal detection rate was influenced mainly by incomplete or absent prenatal care. CONCLUSIONS: The incidence of CHDs is clearly dependent of a multifactorial approach, and the results highlight this. With an incidence almost 50% lower than reported within the literature and a low rate of prenatal detections, CHDs could be a more of a burden to endure regarding medical treatment. Improvements in patients' education, prenatal care, and screening programs could improve diagnosis, decrease mortality, and optimize postnatal care.
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BACKGROUND: Cystic fibrosis (CF) is the most common monogenic disease, characterized by clinically notable polymorphism. Respiratory disease is the main factor that influences the disease outcome and prognosis of the patient with CF, bacterial infections being responsible for severe exacerbations and rhinosinusitis a difficult complication, besides lung disease. AIM: The aim of the paper was to present a case series of CF-associated nasal polyposis and our management experience, providing new data for nasal and sinus complications. PATIENTS, MATERIALS AND METHODS: Patients attending the National Cystic Fibrosis Center, Timisoara, Romania, were evaluated for nasal polyposis. Besides clinical examination, endoscopy, and computed tomography (CT) was performed for comprehensive evaluation. Patients with persistent symptoms or with complicated sinusitis underwent surgical approach. RESULTS: Fourteen (18.18%) children were diagnosed with nasal polyposis and had surgery, with positive outcomes. One patient received Omalizumab for an associated, uncontrolled asthma with a subsequent substantial effect with the significant polyp reduction and lack of recurrence. CONCLUSIONS: Even if extremely difficult to manage, complicated nasal polyposis CF related might have an improved outcome and better life quality.
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BACKGROUND: Primary lactose intolerance (PLI) is characterized by the inability to digest lactose. Homozygotes for the lactase gene polymorphisms (CC or GG) are considered to be genetically predisposed to PLI. Still, symptoms may only be present later in life. The evidence supporting a link between PLI, dairy intake, and quality of life (QoL) is limited in children. AIM: This study investigates the link between LCT polymorphisms and suggestive symptoms and the influence of the genetic predisposition to PLI on dairy intake and QoL in Romanian children. MATERIALS AND METHODS: We recruited consecutive children evaluated in our ambulatory clinic. We asked all participants to complete a visual-analog symptoms scale, a dairy intake, and a QoL questionnaire. We used strip genotyping to identify genetic predisposition to PLI. RESULTS: 51.7% of children had a CC genotype, and 34.5% also had a GG genotype. Most children reported no or mild symptoms. Dairy intake and QoL were similar across study groups. CONCLUSIONS: Our study shows that genetic predisposition does not necessarily assume the presence of specific symptoms. Genetic predisposition to PLI did not lead to dairy avoidance, nor did it negatively influence our children's QoL.
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In cystic fibrosis (CF), the respiratory disease is the main factor that influences the outcome and the prognosis of patients, bacterial infections being responsible for severe exacerbations. The etiology is often multi-microbial and with resistant strains. The aim of this paper is to present current existing antibiotherapy solutions for CF-associated infections in order to offer a reliable support for individual, targeted, and specific treatment. The inclusion criteria were studies about antibiotherapy in CF pediatric patients. Studies involving adult patients or those with only in vitro results were excluded. The information sources were all articles published until December 2021, in PubMed and ScienceDirect. A total of 74 studies were included, with a total number of 26,979 patients aged between 0-18 years. We approached each pathogen individual, with their specific treatment, comparing treatment solutions proposed by different studies. Preservation of lung function is the main goal of therapy in CF, because once parenchyma is lost, it cannot be recovered. Early personalized intervention and prevention of infection with reputable germs is of paramount importance, even if is an asymmetrical challenge. This research received no external funding.
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Limited data are available regarding severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) seroprevalence in children. In this study, we assessed for the first time the seroprevalence of SARS-CoV-2 in children from Romania. Serum samples of 379 children were investigated for the presence of SARS-CoV-2 total antibodies. Serologic tests were performed using Elecsys Anti-SARS-CoV-2 electrochemiluminiscence immunoassay that targets the nucleocapsid protein of the virus. The overall seroprevalence of SARS-CoV-2 total antibodies was 46.70%. No significant difference was observed between seropositive and seronegative children according to age groups, gender, and area of residence. Our findings revealed a high SARS-CoV-2 seroprevalence in Romanian children at the end of the third COVID-19 pandemic wave. Results suggest that children, regardless of age, gender, or area of residence, are susceptible to infection with SARS-CoV-2. Seroprevalence in children was similar to the seroprevalence reported in the adult population from Western Romania during the same period of time, March to June 2021.
Subject(s)
COVID-19 , SARS-CoV-2 , Animals , Antibodies, Viral , COVID-19/epidemiology , COVID-19/veterinary , Humans , Pandemics , Romania/epidemiology , Seroepidemiologic StudiesABSTRACT
(1) Background: In cystic fibrosis (CF), the oral glucose tolerance test (OGTT) is recommended from 10 years old annually to screen and diagnose cystic fibrosis-related diabetes (CFRD). Alternative OGTT characteristics (glucose curve shape, time to glucose peak, one-hour glucose value, and three-hour glucose value with the new shape curve) were studied in other populations considered at high risk for diabetes; (2) Methods: The study analyses classical and alternative OGGT characteristics from 44 children (22 CF, 22 obese without CF), mean age: 12.9 ± 2.2 years evaluated in a single-center from Romania. (3) Results: In 59.1% of children with CF, the predominant OGTT pattern was: abnormal glucose metabolism or CFRD, with a monophasic curve shape, a late peak glucose level, and 1 h glucose ≥ 155 mg/dL, showing a very different pattern compared with sex and age-matched obese children. Statistical estimation agreement between the late glucose peak (K = 0.60; p = 0.005), the 1 h glucose ≥ 155 mg/dL during OGTT (K = 0.69, p = 0.001), and the classical method of interpretation was found. (4) Conclusions: Late peak glucose and 1 h glucose level ≥ 155 mg/dL during OGTT can be used for diagnosing the early glucose metabolism alteration in children with CF.
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BACKGROUND: Life expectancy has increased in cystic fibrosis (CF) patients; however, the rate of mortality is still high, and in a majority of cases, the cause of death is due to respiratory deterioration. Vitamin D plays an important role in immunity and infection prophylaxis, as its deficiency is associated with frequent infections. In CF patients, a deficit of liposoluble vitamins is common, despite daily supplementation. The aim of this study is to evaluate the relation between vitamin D status and lung function expressed by lung clearance index (LCI) in patients with CF. We also assessed the relation of factors such as nutritional status, genotype, and associated comorbidities such as Pseudomonas infection, cystic fibrosis-related diabetes (CFRD), and cystic fibrosis liver disease (CFLD) with vitamin D and LCI. METHODS: A cross-sectional study was conducted at the National Cystic Fibrosis Center by analyzing patients with CF who presented in our center between November 2017 and November 2019. We enrolled in the study patients diagnosed with CF, who were followed up in our CF center and who were able to perform lung function tests. Patients in exacerbation were excluded. RESULTS: A strong negative correlation was found between vitamin D and LCI (r = -0.69, p = 0.000). A lower vitamin D storage was found in patients with CFLD and CFRD. Higher LCI values were found among patients with chronic Pseudomonas infection, with BMI under the 25th percentile, or with associated CFLD. CONCLUSION: In CF patients, vitamin D plays an important role, and its deficit correlates with an impaired LCI. Vitamin D deficit is a risk factor in patients with associated comorbidities such as CFLD and CFRD. Chronic infection with Pseudomonas, the presence of impaired nutritional status, and CFLD are associated with a prolonged LCI.
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BACKGROUND: Cystic fibrosis (CF) lung disease determines the outcome of this condition. For lung evaluation processes, computed tomography (CT) is the gold standard, but also causes irradiation. Lately, lung ultrasound (LUS) has proven to be reliable for the diagnosis of consolidations, atelectasis, and/or bronchiectasis. The aim of our study was to evaluate the value of a newly conceived LUS score by comparing it to the modified Bhalla CT score. A further aim was to evaluate the correlation between the score and the lung clearance index (LCI). METHODS: Patients with CF were screened by LUS, followed by a CT scan. Spearman's test was used for correlations. RESULTS: A total of 98 patients with CF were screened, and 57 were included in the study; their mean age was 11.8 ± 5.5 (mean ± SD) years. The mean LUS score was 5.88 ± 5.4 SD. The LUS CF score had a very strong correlation with the CT score of rs = 0.87 (p = 0.000). LUS showed a good sensibility for detecting atelectasis (Se = 83.7%) and consolidations (Se = 94.4%). A lower Se (77.7%) and Sp (9%) were found for cylindrical bronchiectasis. CONCLUSION: Our study shows that LUS and the lung CF score are parameters that can be used with a complementary role in the diagnosis and monitoring of CF lung disease in children.
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INTRODUCTION: Pneumonia is the principal cause of death among children worldwide. Lung ultrasound (LUS) is a reliable tool for the diagnosis and assessment of community-acquired pneumonia in children. Furthermore, objective parameters, including the pneumonia LUS score, might be useful for pneumonia monitoring. Thus, our aim was to present a newly developed LUS score for pediatric pneumonia (PedPne) and evaluate its relationship with commonly assessed inflammatory markers. METHODS: Children referred to the Pediatric Pneumology Clinic between September 2017 and February 2018 with suspected pneumonia were screened for eligibility for inclusion in the study and informed consent was obtained. In addition to clinical assessment, LUS was performed during consultation, and inflammatory biomarkers, including C-reactive protein level, erythrocyte sedimentation rate (ESR), and leukocyte count, were measured in all inpatients. An LUS score for pneumonia and pleurisy in children (pediatric pneumonia lung ultrasound score [PedPne LUS]) was subsequently developed. Chest radiography (CXR) was also performed according to local guidelines for pneumonia diagnosis. Spearman's correlation test was used to evaluate the correlation between the PedPne score and inflammatory markers. RESULTS: A total of 217 patients were screened, of which 64 patients diagnosed with consolidated pneumonia were included in this study. The median PedPne LUS score of the included patients was 8.02, which was consistent with the consolidations detected on LUS and confirmed by CXR. A very strong positive correlation was found between the LUS PedPne score and C-reactive protein and ESR, and a good correlation was found with the leukocyte count. CONCLUSION: The LUS pneumonia score is a reliable parameter for the evaluation of pneumonia, and shows a strong correlation with inflammatory biomarkers. The PedPne LUS score is a potential noninvasive surrogate parameter of inflammation in pediatric pneumonia.
Subject(s)
Pneumonia , Biomarkers , Child , Humans , Lung/diagnostic imaging , Pilot Projects , Pneumonia/diagnostic imaging , UltrasonographyABSTRACT
Primary lactose intolerance is caused by a genetically programmed loss in lactase production after 5-6 years of age. Milk and dairy products are often incriminated as a cause of gastrointestinal symptoms. Recent studies show that lactase persistence in adult life correlates with higher anthropometric indexes and an altered metabolic profile. We aimed to assess whether the presence of gene polymorphisms for primary lactose intolerance has an influence on the anthropometric and metabolic profile of children. We conducted a cross-sectional study, recruiting consecutive children evaluated at the 2nd Pediatric Clinic, Timisoara from May to August 2016. We enrolled 87 children aged 6-17 years [mean age 10.64±3.51 years; 45 (51.72%) girls]. Subjects were asked to complete an analogue visual scale of symptoms. We measured weight, height, blood pressure and calculated body mass index. The metabolic profile included fasting blood glucose, triglycerides and HDL cholesterol levels. We used strip genotyping to identify gene polymorphisms for primary lactose intolerance. According to the results, our study population was grouped into lactose tolerant (n=42) and lactose intolerant (n=45) groups. No differences were found in regards to weight, height, body mass index and blood pressure between the two study groups. Glucose, triglycerides and HDL cholesterol were similar in the lactose intolerant and lactose tolerant children. The presence of gene polymorphisms for primary lactose intolerance did not influence the children's anthropometric and metabolic profile.
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BACKGROUND: Pneumonia is the leading cause of death among children; thus, a correct early diagnosis would be ideal. The imagistic diagnosis still uses chest X-ray (CXR), but lung ultrasound (LUS) proves to be reliable for pneumonia diagnosis. The aim of our study was to evaluate the sensitivity and specificity of LUS compared to CXR in consolidated pneumonia. METHODS: Children with clinical suspicion of bacterial pneumonia were screened by LUS for pneumonia, followed by CXR. The agreement relation between LUS and CXR regarding the detection of consolidation was evaluated by Cohen's kappa test. RESULTS: A total of 128 patients with clinical suspicion of pneumonia were evaluated; 74 of them were confirmed by imagery and biological inflammatory markers. The highest frequency of pneumonia was in the 0-3 years age group (37.83%). Statistical estimation of the agreement between LUS and CXR in detection of the consolidation found an almost perfect agreement, with a Cohen's kappa coefficient of K = 0.89 ± 0.04 SD, p = 0.000. Sensitivity of LUS was superior to CXR in detection of consolidations. CONCLUSION: Lung ultrasound is a reliable method for the detection of pneumonia consolidation in hospitalized children, with sensitivity and specificity superior to CXR. LUS should be used for rapid and safe evaluation of child pneumonia.
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PURPOSE: The aim of this cross-sectional study was to identify the major factors influencing pulmonary function in CF patients from western side of Romania. PATIENTS AND METHODS: The study enrolled 51 patients with CF between the ages of 6 and 27.8 years who were monitored at regular visits to the National Cystic Fibrosis Centre and Pius Branzeu County Hospital in Timisoara, Romania, over a period of 2 years. The relationships between lung function, as measured by forced expiratory volume in 1 s (FEV1), with patient age, sex, body mass index (BMI), pancreatic insufficiency (PI), microbial infection, CF-related diabetes (CFRD), CF-associated liver disease (CFLD), and physical activity <30 min/day, were evaluated by multivariate regression analysis. RESULTS: The results showed that FEV1 was 0.32% higher for each increase in percentile of BMI (95% confidence interval: 0.034-0.619). In addition, mean FEV1 was 1.52% lower with every year rise of age. PI and female sex increased the risk of impaired lung function (FEV1 <60%). The factors most closely correlated with pulmonary function in pediatric CF patients were current age (negative) and BMI (positive). CONCLUSION: The findings of this study, in combination with what is known from other studies in CF, suggest that a better nutritional status and infection prophylaxis should be part of a comprehensive clinical management strategy for pediatric CF in Romania.
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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.
Subject(s)
COVID-19/epidemiology , Cystic Fibrosis/complications , Adolescent , Adult , COVID-19/diagnosis , COVID-19/therapy , Child , Child, Preschool , Critical Care , Cystic Fibrosis/mortality , Cystic Fibrosis/therapy , Europe/epidemiology , Female , Hospitalization , Humans , Incidence , Infant , Infant, Newborn , Lung Transplantation , Male , Middle Aged , Registries , Retrospective Studies , Young AdultABSTRACT
BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in people with cystic fibrosis (pwCF) can lead to severe outcomes. METHODS: In this observational study, the European Cystic Fibrosis Society Patient Registry collected data on pwCF and SARS-CoV-2 infection to estimate incidence, describe clinical presentation and investigate factors associated with severe outcomes using multivariable analysis. RESULTS: Up to December 31, 2020, 26 countries reported information on 828 pwCF and SARS-CoV-2 infection. Incidence was 17.2 per 1000 pwCF (95% CI: 16.0-18.4). Median age was 24â years, 48.4% were male and 9.4% had lung transplants. SARS-CoV-2 incidence was higher in lung-transplanted (28.6; 95% CI: 22.7-35.5) versus non-lung-transplanted pwCF (16.6; 95% CI: 15.4-17.8) (p≤0.001).SARS-CoV-2 infection caused symptomatic illness in 75.7%. Factors associated with symptomatic SARS-CoV-2 infection were age >40â years, at least one F508del mutation and pancreatic insufficiency.Overall, 23.7% of pwCF were admitted to hospital, 2.5% of those to intensive care, and regretfully 11 (1.4%) died. Hospitalisation, oxygen therapy, intensive care, respiratory support and death were 2- to 6-fold more frequent in lung-transplanted versus non-lung-transplanted pwCF.Factors associated with hospitalisation and oxygen therapy were lung transplantation, cystic fibrosis-related diabetes (CFRD), moderate or severe lung disease and azithromycin use (often considered a surrogate marker for Pseudomonas aeruginosa infection and poorer lung function). CONCLUSION: SARS-CoV-2 infection yielded high morbidity and hospitalisation in pwCF. PwCF with forced expiratory volume in 1â s <70% predicted, CFRD and those with lung transplants are at particular risk of more severe outcomes.
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BACKGROUND: Cystic fibrosis (CF) is the most frequent monogenic genetic disease with autosomal recessive transmission and characterized by important clinical polymorphism and significant lethal prospective. CF related bone disease occurs frequently in adults with CF. Childhood is the period of bone formation, and therefore, children are more susceptible to low bone density. Several factors like pancreatic insufficiency, hormone imbalance, and physical inactivity contribute to CF bone disease development. Revealing this would be important for prophylactic treatment against bone disease occurrence. The study was observational, transversal, with a cross-sectional design. METHODS: The study included 68 children with cystic fibrosis, genotyped and monitored in the National CF Centre. At the annual assessment, besides clinical examination, biochemical evaluation for pancreatic insufficiency, and diabetes, they were evaluated for bone mineral density using dual energy X-ray absorptiometry (DXA). RESULTS: Twenty-six patients, aged over 10 years were diagnosed with CF bone disease, without significant gender gap. Bone disease was frequent in patients aged over 10 years with exocrine pancreatic insufficiency, carriers of severe mutations, and CF liver disease. CONCLUSIONS: CF carriers of a severe genotype which associates pancreatic insufficiency and CF liver disease, are more likely predisposed to low bone mineral density. Further studies should discover other significant influences in order to prevent the development of CF bone disease and an improved quality of life in cystic fibrosis children.
Subject(s)
Bone Density , Bone Diseases/genetics , Cystic Fibrosis/genetics , Adolescent , Bone Diseases/etiology , Bone Diseases/physiopathology , Child , Cross-Sectional Studies , Cystic Fibrosis/complications , Cystic Fibrosis/physiopathology , Female , Humans , Male , Prospective Studies , Quality of LifeABSTRACT
Cystic fibrosis (CF) is the most frequent monogenic genetic disease, autosomal recessive transmitted, characterized by an impressive clinical polymorphism and appreciative fatal prospective. Liver disease is the second non-pulmonary cause of death in cystic fibrosis, which, with increasing life expectancy, became an important management problem. Predisposing factors like male gender, pancreatic insufficiency, meconium ileus and severe mutation are incriminated to influence the occurrence of cystic fibrosis associated liver disease (CFLD). Our study included 174 patients with CF, monitored in the National Cystic Fibrosis Centre, Timisoara, Romania. They were routinely followed-up by clinical assessment, liver biochemical tests, ultrasound examinations and other methods like transient elastography, biopsy, in selected cases. Sixty-six patients, with median age at diagnosis 4.33 years, diagnosed with CFLD, without significant gender gap. CFLD was frequent in patients aged over eight years, with meconium ileus history, carriers of severe mutations (p=0.002). Pancreatic insufficiency, although present in 75% of patients with CFLD was not confirmed as risk factor, not male gender, in our study. CF children older than eight years, carriers of a severe genotype, with a positive history of meconium ileus, were more likely predisposed to CFLD.
Subject(s)
Cystic Fibrosis/complications , Cystic Fibrosis/diagnosis , Liver Diseases/diagnosis , Liver Diseases/etiology , Adolescent , Child , Cystic Fibrosis/diagnostic imaging , Cystic Fibrosis/pathology , Female , Genotype , Humans , Liver Diseases/diagnostic imaging , Liver Diseases/pathology , Male , Risk Factors , Ultrasonography , Young AdultABSTRACT
Celiac disease (CD) is characterized by an abnormal immune response in susceptible individuals to dietary gluten derived from wheat, rye and barley. The disease affects not only the small bowel mucosa, but also many other extraintestinal organs resulting bone, liver, neurologic, skin and reproductive system disorders. The details of the pathogenic mechanism are not perfectly clear yet, but it is now proved that both humoral and cellular immune responses are triggered and autoimmune mechanisms are implicated. Studies have shown association of different pregnancy outcomes with maternal celiac disease. In this review, the most frequent fetal and neonatal outcome related to CD are presented, with a special focus on intrautherine growth restriction (IUGR) and prematurity. The need of active case finding of CD is discussed.
Subject(s)
Celiac Disease/epidemiology , Pregnancy Complications/epidemiology , Pregnancy Outcome/epidemiology , Celiac Disease/diagnosis , Female , Fetal Growth Retardation/epidemiology , Fetus/physiology , Humans , Infant, Newborn , Pregnancy , Pregnancy Complications/diagnosis , Premature Birth/epidemiology , PrognosisABSTRACT
BACKGROUND: Cystic fibrosis (CF) is produced by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) gene. METHODS: One hundred twenty eight patients with CF were analysed for mutations in the CFTR gene in order to establish the frequency of CF mutations in the Romanian population. The chief methods of analysis were polymerase chain reaction (PCR) of DNA extracted from blood and electrophoresis of PCR products. RESULTS: The frequency of F508del in CF chromosomes from Romania is approximately 56.3%. Other frequent mutations noted are: G542X (3.9%), W1282X (2.3%), and CFTRdele2,3(21 kb)(1.6%); the remaining mutations have frequencies below 1%. CONCLUSIONS: We consider that the frequency of F508del in CF patients from Romania is higher than in previous reports, reaching 56.3%, probably owing to more rigorous selection of patients for genetic testing, allowing improved calculation of mutation frequencies.