ABSTRACT
Introduction: Correct technique with a pressurized metered-dose inhaler (pMDI) equipped with a valved holding chamber (VHC) or spacer provides an important advantage for adequate control of asthma and virus-induced wheezing in young children. The aim of this study was to assess the ability and knowledge of physicians and nurses to use a pMDI with a masked VHC in two pediatric emergency units.Methods: Study design: Two-center observational study. Inhaler use technique was assessed in 50 physicians and 50 nurses using a child mannequin and a validated videotaped nine-step scoring method. The participants' knowledge was evaluated by a questionnaire.Results: The inhalation technique was perfectly mastered by 49% of the study participants and almost perfectly mastered by another 34% (mean score 8.3 ± 0.7; range 5-9). Nurses were more likely than doctors to demonstrate the technique perfectly (66% vs. 32%, p < 0.05). The two most common errors were forgetting to shake the pMDI between two consecutive puffs (38% of the participants) and putting the patient in an incorrect position (11%). About half of the participants reported that they checked each patient's inhalation technique at every opportunity and knew how to clean the VHC. A large majority did not employ a reliable method to determine the amount of medication remaining in pMDIs without a counter.Conclusion: Healthcare professionals' practical skills and knowledge on inhalation therapy were not completely mastered and could be improved with a mandatory training program.
Subject(s)
Asthma/drug therapy , Health Knowledge, Attitudes, Practice , Hospitals, Pediatric , Metered Dose Inhalers , Nurses/standards , Physicians/standards , Administration, Inhalation , Adult , Emergency Service, Hospital , Female , Humans , Inhalation Spacers , Male , Manikins , Middle AgedABSTRACT
BACKGROUND: Little is known about cystic fibrosis patients, who are not considered to be terminally ill, and who die after voluntary cessation of treatment. AIM: This study was undertaken to provide an international snapshot of this issue. DESIGN: An online survey was distributed across three continents. SETTING: Distribution to the medical directors of the cystic fibrosis centres affiliated with the US Cystic Fibrosis Foundation, Cystic Fibrosis Australia (inclusion of New Zealand) and to every clinician member of the European Cystic Fibrosis Society. RESULTS: More than 200 cystic fibrosis patients not considered to be terminally ill and, who voluntarily ceased treatment, were reported by the clinicians surveyed. Detailed data were reported in 102 patients (4 children, 25 adolescents and 73 adults). Only one child, six adolescents and one adult were judged by clinicians not to be competent to make the decision to stop treatment. Time-consuming and low immediate-impact therapies, such as respiratory physiotherapy, were most frequently discontinued. Resignation was the main reported reason for discontinuing treatment, followed by reactive depression and lack of familial support. A total of 69% of the patients received palliative care and 72% died in the 6 months following cessation of treatment. CONCLUSION: Death of cystic fibrosis patients, not considered to be terminally ill, is reported in Europe, the United States and Australia due to voluntary cessation of treatment.
Subject(s)
Cystic Fibrosis , Patient Dropouts , Adolescent , Adult , Australia , Child , Cystic Fibrosis/mortality , Cystic Fibrosis/therapy , Europe , Female , Health Care Surveys , Health Services Research , Humans , Male , United States , Young AdultABSTRACT
The diagnosis of cystic fibrosis (CF) is often delayed because of the nonspecificity of a wide variety of clinical symptoms at disease onset. Newborn screening for CF has been advocated to reduce delays in diagnosis, facilitating preventive care for early respiratory and nutritional involvement. According to American and European consensus and experience of existing programs, a Swiss Nationwide Cystic Fibrosis Newborn Screening Program started in January 2011. Screening strategy combines two steps: an immunoreactive trypsinogen assay and DNA mutation analysis in dried blood samples at day 4 (Guthrie cards).
Subject(s)
Cystic Fibrosis/diagnosis , Neonatal Screening , Trypsinogen/blood , Cystic Fibrosis/blood , Cystic Fibrosis/genetics , Cystic Fibrosis/prevention & control , DNA Mutational Analysis , Humans , Infant, Newborn , Predictive Value of Tests , Sensitivity and Specificity , SwitzerlandABSTRACT
BACKGROUND: Mycoplasma hominis is a fastidious micro-organism causing systemic infections in the neonate and genital infections in the adult. It can also be the cause of serious extra-genital infections, mainly in immunosuppressed or predisposed subjects. CASE PRESENTATION: We describe a case of severe pneumonia and pericarditis due to Mycoplasma hominis in a previously healthy adolescent who did not respond to initial therapy. CONCLUSIONS: Mycoplasma hominis could be an underestimated cause of severe pneumonia in immunocompetent patients and should be particularly suspected in those not responding to standard therapy.
Subject(s)
Mycoplasma Infections/diagnosis , Mycoplasma hominis , Pericarditis/microbiology , Pleuropneumonia/microbiology , Adolescent , Female , Humans , Pericarditis/diagnosis , Pleuropneumonia/diagnosisABSTRACT
Numerous benefits are attributed to omega-3 fatty acids (OM3) especially in cardiovascular health. However, bioavailability and clinical efficacy depend on numerous factors, including OM3 form, food matrix effects (especially the lipid content of the diet), and metabolic capacity. Here, we show in humans that a "pre-digested" OM3-sn-1(3)-monoacylglycerol lipid structure (OM3-MAG) has a significantly greater absorption at high therapeutic doses (2.9 g/day) than the most commonly OM3-ethyl ester (3.1 g/day) form (used for the treatment of hypertriglyceridemia), and a comparable profile to other pre-digested OM3 free fatty acids (OM3-FFA) structure (3.2 g/day). Nutritional supplement doses of MAG resulted in similar increases in OM3 blood level, compared to OM3 triacylglycerols (OM3-TAG) supplements in obese subjects (1.2 g/day) under low fat diet, and in children with cystic fibrosis (1.0 g/day). These results suggest that both forms of pre-digested OM3-MAG and OM3-FFA are effectively absorbed and re-incorporated effectively into triacylglycerols inside the enterocytes, before being exported into the chylomicrons lipid transport system. The pre-digested OM3-MAG might provide a more effective therapy in severe cardiovascular conditions where high doses of OM3 are required and a low-fat diet is indicated, which limited digestive lipase activity.
Subject(s)
Cystic Fibrosis/drug therapy , Dietary Supplements , Fatty Acids, Omega-3 , Hypertriglyceridemia/drug therapy , Monoglycerides , Obesity/drug therapy , Adult , Biological Availability , Chylomicrons/metabolism , Cystic Fibrosis/blood , Cystic Fibrosis/pathology , Enterocytes/metabolism , Fatty Acids, Omega-3/administration & dosage , Fatty Acids, Omega-3/pharmacokinetics , Female , Humans , Hypertriglyceridemia/blood , Hypertriglyceridemia/pathology , Male , Middle Aged , Monoglycerides/administration & dosage , Monoglycerides/pharmacokinetics , Obesity/blood , Obesity/pathology , Triglycerides/bloodABSTRACT
Primary ciliary dyskinesia (PCD) is a rare, hereditary, multiorgan disease caused by defects in the structure and function of motile cilia. It results in a wide range of clinical manifestations, most commonly in the upper and lower airways. Central data collection in national and international registries is essential to studying the epidemiology of rare diseases and filling in gaps in knowledge of diseases such as PCD. For this reason, the Swiss Primary Ciliary Dyskinesia Registry (CH-PCD) was founded in 2013 as a collaborative project between epidemiologists and adult and paediatric pulmonologists. We describe the objectives and methodology of the CH-PCD, present initial results, and give an overview of current and ongoing projects. The registry records patients of any age, suffering from PCD, who are treated and resident in Switzerland. It collects information from patients identified through physicians, diagnostic facilities and patient organisations. The registry dataset contains data on diagnostic evaluations, lung function, microbiology and imaging, symptoms, treatments and hospitalisations. By May 2018, CH-PCD has contacted 566 physicians of different specialties and identified 134 patients with PCD. At present, this number represents an overall 1 in 63,000 prevalence of people diagnosed with PCD in Switzerland. Prevalence differs by age and region; it is highest in children and adults younger than 30 years, and in Espace Mittelland. The median age of patients in the registry is 25 years (range 573), and 41 patients have a definite PCD diagnosis based on recent international guidelines. Data from CH-PCD are contributed to international collaborative studies and the registry facilitates patient identification for nested studies. CH-PCD has proven to be a valuable research tool that already has highlighted weaknesses in PCD clinical practice in Switzerland. Trial registration number: NCT03606200
Subject(s)
Kartagener Syndrome/epidemiology , Rare Diseases , Registries , Adult , Cilia/ultrastructure , Female , Humans , Kartagener Syndrome/diagnosis , Male , Pediatrics , Prevalence , Pulmonologists , Switzerland/epidemiologyABSTRACT
Exhaled nitric oxide (FENO) is a well-known, non-invasive airway biomarker. In patients with Cystic Fibrosis (CF) FENO is decreased. To understand if reduced FENO is primary related to Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) dysfunction or an epiphenomenon of chronic inflammation, we measured FENO in 34 infants with CF prior to clinical symptoms and in 68 healthy controls. FENO was lower in CF compared to controls (p=0.0006) and the effect was more pronounced in CF infants without residual CFTR function (p<0.0001). This suggests that FENO is reduced in CF early in life, possibly associated with underlying CFTR dysfunction.
Subject(s)
Breath Tests/methods , Cystic Fibrosis Transmembrane Conductance Regulator/metabolism , Cystic Fibrosis , Nitric Oxide , Asymptomatic Diseases , Biomarkers/analysis , Biomarkers/metabolism , Cohort Studies , Cystic Fibrosis/diagnosis , Cystic Fibrosis/metabolism , Exhalation , Female , Humans , Infant , Inflammation/metabolism , Male , Nitric Oxide/analysis , Nitric Oxide/metabolism , SwitzerlandABSTRACT
BACKGROUND: A flexible bronchoscope typically gets its designated size from the diameter of the distal tip but this is not the maximum diameter of the insertion tube. AIM: The aim of this study was to determine the size and site of the maximum diameter of flexible bronchoscope insertion tubes and to compare standard bronchofiberscopes with newer bronchovideoscopes. METHODS: We assessed 10 bronchoscopes ranging from 2.2 to 4.9 mm external diameter (Olympus, Tokyo, Japan) using an electronic digital caliper. Investigators were blinded to the type and model of each scope. The median, minimum and maximum diameters of the bronchoscopes were calculated and the measured diameters were compared with the stated diameters of the distal tip and insertion tube. RESULTS: The maximum and median measured diameters were wider than the stated diameter of the distal tip in all the scopes. The maximum discrepancy between the measured and stated diameters ranged from 0.19 mm (6.7%) to 0.66 mm (22.2%) with a mean of 0.41 mm (14.0%). There was no difference between bronchofiberscopes and bronchovideoscopes. CONCLUSION: The maximum diameter of the distal tip and insertion tube of pediatric sized flexible bronchoscopes is significantly greater than the manufacturer's specifications. This may impact on the choice of bronchoscope selected for procedures in children.
Subject(s)
Bronchoscopes , Child , Equipment Design , HumansABSTRACT
The first cystic fibrosis (CF) scoring system was published in 1958. Since then, many other scoring systems were developed. Clinical parameters, details about statistical evaluations, and recent strategic uses of scores were identified. Several similar scores aiming to assess chronic illness severity (Shwachman-Kulczycki score and a modification, Cooperman, Berneze-score and the NIH score) have not been evaluated and are out of date, given the changing natural history of CF. Of the current scoring systems, the modified Shwachman score by Doershuk is perhaps most reliable for describing follow-up studies. Scores designed for acute changes and short-term evaluation were also developed. The modified Huang score may be useful in the prognostic evaluation of patients with end-stage disease. It could also be used for discrimination of adult patients with differing disease severity and for longitudinal evaluation. Scores assessing pulmonary exacerbations could help provide consensus among clinicians regarding the need for intervention. Most of these scores require further evaluation. Although scores could provide an objective measure of disease severity, progression, need for and response to interventions, including value in selecting patients for lung transplantation and as an outcome measure for research studies, no scoring system can fulfill all these objectives. Nevertheless, there is a need for the development of a modern day longitudinal score that is sensitive, valid and reproducible, to reflect the milder disease status of patients.
Subject(s)
Cystic Fibrosis/classification , Child , Chronic Disease , Humans , Severity of Illness IndexABSTRACT
Treatment of parapneumonic effusion in children remains controversial in the literature and in clinical practice. The aim of this study was to determine whether mutual consensus exists in the diagnosis and treatment of parapneumonic effusion in Central European countries. A questionnaire was sent to all directors of pediatric respiratory units in four adjacent Central European countries (Austria, France, Germany, Switzerland). The response rate was 61.8%. Responses reflected acceptable agreement regarding initial diagnostic procedures, as most centers performed chest X-ray and biological exams, followed by ultrasound, thoracocentesis, or computed tomography. However, antibiotic regimens were very heterogeneous, and the survey revealed complete lack of agreement on the indications and effusion volume threshold for invasive procedures, such as fibrinolytic instillation and thoracoscopy. In conclusion, apart from initial diagnostic procedures, this study showed a lack of mutual consensus among the four countries regarding the management of pediatric parapneumonic effusion. Multicenter prospective trials are clearly needed to acquire more evidence on the management of childhood parapneumonic effusion, enabling the development of evidence-based algorithms that could help to avoid unnecessary examinations with potential long-term side effects, such as radiation exposure at a young age.
Subject(s)
Anti-Bacterial Agents/therapeutic use , Consensus , Empyema, Pleural/diagnosis , Fibrinolytic Agents/therapeutic use , Pleural Effusion/diagnosis , Radiography, Thoracic , Austria/epidemiology , Child , Child, Preschool , Diagnosis, Differential , Empyema, Pleural/epidemiology , Empyema, Pleural/therapy , Female , France/epidemiology , Germany/epidemiology , Humans , Male , Pleural Effusion/epidemiology , Pleural Effusion/therapy , Prospective Studies , Risk Assessment , Switzerland/epidemiology , Tomography, X-Ray ComputedABSTRACT
BACKGROUND: Newborn screening for CF started 01/2011 in Switzerland. We investigated the parents' opinions about the information received, their feelings, and overall approval of the screening. METHODS: This is a prospective questionnaire survey of all parents of positively screened children. Parents were phoned by CF-centres and invited for diagnostic investigations. They completed a questionnaire after the visit to the CF-centre. RESULTS: From 2011-2013, 246 families received the questionnaire and 138 (56%) replied. Of these 77 (60%) found the information received at birth satisfactory; 124 (91%) found the information provided in the CF-centre satisfactory. Most parents (n=98, 78%) felt troubled or anxious when the CF-centre called, 51 (38%) remained anxious after the visit. Most parents (n=122; 88%) were satisfied with the screening, 4 (3%) were not, and 12 (9%) were unsure. CONCLUSIONS: The smooth organisation of the screening process, with personal information by a CF specialist and short delays between this information and the final diagnostic testing, might have contributed to reduce anxiety among parents. Most families were grateful that their child had been screened, and are happy with the process.
Subject(s)
Consumer Health Information , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis , Neonatal Screening , Adult , Consumer Behavior , Consumer Health Information/methods , Consumer Health Information/organization & administration , Consumer Health Information/standards , Cystic Fibrosis/diagnosis , Cystic Fibrosis/epidemiology , Cystic Fibrosis/genetics , Cystic Fibrosis/psychology , Female , Genetic Testing/methods , Humans , Infant, Newborn , Male , Needs Assessment , Neonatal Screening/organization & administration , Neonatal Screening/psychology , Neonatal Screening/standards , Parents/psychology , Perinatal Care/methods , Perinatal Care/organization & administration , Pregnancy , Surveys and Questionnaires , Switzerland/epidemiologyABSTRACT
INTRODUCTION: Acquisition of Pseudomonas aeruginosa (PA) in the lungs of patients with cystic fibrosis (CF) is a marker of poor survival. PA is a ubiquitous pathogen prevalent in humid conditions. This study aimed to identify the prevalence of PA in public swimming pools, as well as from water taps. METHODS: Water was collected from public indoor and outdoor pools in the area of St. Gallen, Switzerland. In addition, standing and running water was sampled from bathroom water taps of 50 patients with CF. RESULTS: Outdoor pools: In 2002, none of the 72 specimens from 28 pools revealed PA. In 2003, three specimens from 46 pools (7%) revealed PA, each were from a different paddling pool. Indoor pools: two of 128 specimens from 56 pools (4%) identified PA, both were from non-public hydrotherapy pools. Water taps: in winter, none of the 102 specimens was colonized with PA. in summer, only two out of 50 specimens of the standing water were positive for PA but none of the running water revealed PA. CONCLUSION: The prevalence of PA in public swimming pools and bathroom water taps in the eastern part of Switzerland is very low. On hot summer days, outdoor paddling pools and standing tap water can contain PA. This study does not support recommendations to avoid public swimming pools or running tap water if the water is maintained according to hygiene guidelines.
Subject(s)
Cystic Fibrosis , Fresh Water/microbiology , Pseudomonas aeruginosa/isolation & purification , Swimming Pools/standards , Water Supply , Colony Count, Microbial , Humans , Hydrotherapy/adverse effects , Pseudomonas aeruginosa/pathogenicity , Risk Factors , SwitzerlandABSTRACT
Abdominal pain is common in individuals with cystic fibrosis (CF). We report on a 17-year old boy with CF and two recognized intussusceptions: the first colonic intussusception was presumed due to distal intestinal obstruction syndrome, and the second enteric one due to polypoid lesions containing heterotopic gastric mucosa. The presentation, pathology, management, and a literature review of intussusception in CF are discussed.
Subject(s)
Colonic Diseases/complications , Cystic Fibrosis/complications , Intussusception/complications , Jejunal Diseases/complications , Adolescent , Choristoma , Gastric Mucosa , Humans , Intestinal Polyps/complications , Intestinal Polyps/pathology , Male , ReoperationABSTRACT
Salbutamol pressurised metered-dose inhalers (pMDIs) are not equipped with dose counters outside the USA. The aim of this study was to describe a simple reproducible method for determining the number of doses remaining in a pMDI based on scale weight. With a laboratory scale, the mean weight of the canisters was 28.61 ± 0.10 g after priming and 14.84 ± 0.23 g after 200 puffs. Similar results were obtained with two common digital scales. We recommend weighing salbutamol canisters on a common digital scale, and replacing an old pMDI with a new one when the weight falls to ≤15 g.
Subject(s)
Albuterol/administration & dosage , Bronchodilator Agents/administration & dosage , Nebulizers and Vaporizers , Weights and MeasuresABSTRACT
BACKGROUND: Lung clearance index (LCI), a marker of ventilation inhomogeneity, is elevated early in children with cystic fibrosis (CF). However, in infants with CF, LCI values are found to be normal, although structural lung abnormalities are often detectable. We hypothesized that this discrepancy is due to inadequate algorithms of the available software package. AIM: Our aim was to challenge the validity of these software algorithms. METHODS: We compared multiple breath washout (MBW) results of current software algorithms (automatic modus) to refined algorithms (manual modus) in 17 asymptomatic infants with CF, and 24 matched healthy term-born infants. The main difference between these two analysis methods lies in the calculation of the molar mass differences that the system uses to define the completion of the measurement. RESULTS: In infants with CF the refined manual modus revealed clearly elevated LCI above 9 in 8 out of 35 measurements (23%), all showing LCI values below 8.3 using the automatic modus (paired t-test comparing the means, P < 0.001). Healthy infants showed normal LCI values using both analysis methods (n = 47, paired t-test, P = 0.79). The most relevant reason for false normal LCI values in infants with CF using the automatic modus was the incorrect recognition of the end-of-test too early during the washout. CONCLUSION: We recommend the use of the manual modus for the analysis of MBW outcomes in infants in order to obtain more accurate results. This will allow appropriate use of infant lung function results for clinical and scientific purposes.
Subject(s)
Algorithms , Cystic Fibrosis/physiopathology , Respiratory Function Tests/instrumentation , Respiratory Function Tests/methods , Software , Case-Control Studies , Female , Humans , Infant , Male , Reference ValuesABSTRACT
BACKGROUND: Desquamative interstitial pneumonia is a rare form of interstitial lung disease in children. Respiratory symptoms appear progressively, are often subtle, and diagnosis is often delayed by a mean of 6 months after onset. High resolution chest computed tomography is the most sensitive imaging technique for demonstrating and identifying interstitial pneumonia. The typical histologic pattern of desquamative interstitial pneumonia, with prominent clustered alveolar macrophages, diffuse reactive alveolar epithelial hyperplasia and globular proteinaceous material, is diagnostic. Desquamative interstitial pneumonia in children can be idiopathic, though it is mostly related to an inborn error of surfactant metabolism. CASE PRESENTATION: We present the complex clinical course and pathologic findings of a 30-months-old Mauritian and Senegalese girl with idiopathic desquamative interstitial pneumonia and multiple extrapulmonary manifestations. To our knowledge, this is the first case report of desquamative interstitial pneumonia to occur as part of a syndrome with multiple organ involvement. CONCLUSION: We believe that desquamative interstitial pneumonia is not always associated with mutations of the surfactant proteins, and can still be idiopathic, especially when occurring as part of a syndrome with multiple organ involvement, as described in other interstitial lung diseases.
Subject(s)
Lung Diseases, Interstitial/diagnosis , Lung/pathology , Child, Preschool , Developmental Disabilities/complications , Female , Humans , Kidney Diseases/complications , Lung Diseases, Interstitial/etiology , Skin Diseases/complicationsABSTRACT
Determination of the precise composition and variation of microbiota in cystic fibrosis lungs is crucial since chronic inflammation due to microorganisms leads to lung damage and ultimately, death. However, this constitutes a major technical challenge. Culturing of microorganisms does not provide a complete representation of a microbiota, even when using culturomics (high-throughput culture). So far, only PCR-based metagenomics have been investigated. However, these methods are biased towards certain microbial groups, and suffer from uncertain quantification of the different microbial domains. We have explored whole genome sequencing (WGS) using the Illumina high-throughput technology applied directly to DNA extracted from sputa obtained from two cystic fibrosis patients. To detect all microorganism groups, we used four procedures for DNA extraction, each with a different lysis protocol. We avoided biases due to whole DNA amplification thanks to the high efficiency of current Illumina technology. Phylogenomic classification of the reads by three different methods produced similar results. Our results suggest that WGS provides, in a single analysis, a better qualitative and quantitative assessment of microbiota compositions than cultures and PCRs. WGS identified a high quantity of Haemophilus spp. (patient 1) or Staphylococcus spp. plus Streptococcus spp. (patient 2) together with low amounts of anaerobic (Veillonella, Prevotella, Fusobacterium) and aerobic bacteria (Gemella, Moraxella, Granulicatella). WGS suggested that fungal members represented very low proportions of the microbiota, which were detected by cultures and PCRs because of their selectivity. The future increase of reads' sizes and decrease in cost should ensure the usefulness of WGS for the characterisation of microbiota.
Subject(s)
Cystic Fibrosis/microbiology , Genome, Human/genetics , Lung/microbiology , Microbiota , Sequence Analysis, DNA/methods , Adolescent , Bacteria/genetics , Female , Fungi/genetics , Humans , Microbiota/genetics , Phylogeny , Species Specificity , Sputum/microbiologyABSTRACT
INTRODUCTION: Respiratory therapy is a keystone of the treatment for cystic fibrosis (CF) lung disease, but it is time consuming. OBJECTIVES: We aimed to assess the total time spent on respiratory therapy, including chest physiotherapy (CPT) and physical activity (PA), as well as inhalation therapy (IT) and maintenance of materials (MM) to rationalise and optimise treatment. METHODS: A cross-sectional prospective study in a paediatric CF cohort. A questionnaire was developed to look at the time spent on respiratory care over 3 months. Enrolled in this study are all CF patients aged from 6 to 16 years (the exclusion criterion was lung transplantation). RESULTS: Of the 40 enrolled patients, 22 participated (13 boys and 9 girls), with a mean age of 11 years. The patients spent approximately 19.46 h per week (standard deviation ± 7.53, 8.00-35.25 h) on therapy: CPT (30.58%), IT (15.11%), PA (50%) and MM (4.32%), without statistical significance between sexes. CONCLUSION: In our cohort, CF patients spent an average of nearly 20 h a week in respiratory therapy, within a wide range of between 8 h to almost 36 h a week. PA consumes almost half of the time. Physicians have to take into consideration the burden of the treatment, to optimise the therapy.
Subject(s)
Cystic Fibrosis/therapy , Physical Therapy Modalities , Respiratory Therapy , Task Performance and Analysis , Adolescent , Child , Cross-Sectional Studies , Female , Humans , Male , Motor Activity , Prospective Studies , Surveys and Questionnaires , Time FactorsABSTRACT
Since the beginning of population screening for CF carriers, it has become apparent that complex CFTR alleles are not uncommon. Deciphering their impact in disease pathogenesis remains a challenge for both clinicians and researchers. We report the observation of a new complex allele p.[R74W+R1070W+D1270N] found in trans with a type 1 mutation and associated with clinical diagnosis of cystic fibrosis in a one year-old Moroccan patient. This case underlines the difficulties in counseling patients with uncommon mutations and the necessity of functional studies to evaluate the structure-function relationships, since the association of several variations in cis can dramatically alter CFTR function.
Subject(s)
Alleles , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Female , Heterozygote , Humans , Infant , MoroccoABSTRACT
The diagnosis of allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis patients remains challenging, mainly owing to overlapping symptoms of the underlying lung disease with clinical symptoms of ABPA. In addition, a varying mixture of diagnostic criteria, including clinical status, radiological findings and immunological measurements, has led to confusion and differing recommendations. In order to help simplify as well as standardize the diagnostic criteria for ABPA, different serological markers have been evaluated in the last 20 years and their usefulness has been assessed in many clinical studies. This review presents current diagnostic criteria of ABPA, with a special focus on serum markers supporting the diagnosis and explains why the hunt for a serological marker for ABPA is still ongoing.