Background and objective Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disease and the severity of the disease related with genetic analysis has been described in some previous studies. The main aim of our study was to describe the clinical characteristics and laboratory findings of patients with genetically diagnosed PCD and to investigate the correlation between clinical, radiologic, and laboratory findings and genetic analyses of these patients. Method This is a cohort study in which we analyzed the clinical characteristics, laboratory findings, and genetic results of 46 patients with genetically diagnosed PCD through whole‐exome sequencing at our single center from a total of 265 patients with PCD within a 5‐year period. Results Genetic analysis revealed pathogenic variants in DNAH5 (n = 12 individuals, 12 families), CCDC40 (n = 9 individuals, six families), RSPH4A (n = 5 individuals, three families), DNAH11 (n = 4 individuals, four families), HYDIN (n = 5 individuals, five families), CCNO (n = 4 individuals, four families), DNAI1 (n = 2 individuals, one family), ARMC4 (n = 2 individuals, two families), TTC25 (n = 1), DNAH1 (n = 1), and CCDC39 (n = 1) genes. Although not statistically significant, the age at diagnosis was lower (median: 3 years; range, 6 months‐4 years) in patients with CCNO pathogenic variants due to the early reporting of symptoms, and the median body mass index (BMI) and BMI z scores were lower in patients at 18.7 and 16 kg/m2, and −0.78 and −1.2 with CCDC40 and CCNO pathogenic variants, respectively. The median forced expiratory flow in 1 second (FEV1%), forced vital capacity (FVC%), and forced expiratory flow (FEF)25‐75% were 53%, 64%, and 28%, respectively; these parameters were also lower in the CCDC40 group than in the other groups. There was no significant correlation between the genetic results and symptoms, radiologic findings, and microbiologic data of patients with PCD. Conclusion In PCD, there was significant heterogeneity of lung disease, patients who had pathogenic variants in CCNO presented earlier, and those with CCDC40 and CCNO had worse lung disease, and poorer nutritional status compared with the other subgroups. We hope that whole genotype‐phenotype and clinical relationships will be identified in PCD.

Objectives: To evaluate the risk factors of recurrent pulmonary exacerbation and poor prognosis in children with idiopathic pulmonary hemosiderosis (IPH). Methods: In this multicenter study, 54 patinets with diagnosis of IPH included. Medical records were retrospectively reviewed from three tertiary care hospitals between 1979 and 2019. Also, current information and the long-term progress of patients was determined by contacting the families by telephone. Results: A total of 54 children were included. The median age of onset of symptoms was 4.5 ± 3.8 years. The median time from onset to diagnosis was 0.9 years ± 2.2. The mean number of recurrent episodes per child in the recurrence-positive group was 3.55 (1-15). Univariate analysis demonstrated that patients presenting with hypoxia or requiring transfusion at the time of presentation had significantly more recurrence episodes (P=0.002). Multivariate analysis showed that the presence of hypoxia at the time of initial presentation was a significant independent predictor of recurrent episodes (P=0.027). The median follow-up was 3.3 ± 4.8 years (0.75 months-27 years). There was a significant relationship between the presence of hypoxia, transfusion history, ANA positivity, and elevated transaminases at the time of initial evaluation and treatment response. Conclusions: The present study provides important information on the clinical course and outcome of pediatric IPH, and substantial information regarding factors that affect recurrent exacerbations and prognosis. Demonstrating of hypoxia as an independent risk factor in recurrence episodes could be guide physicians in the planning of treatment strategies.

Background Respiratory viruses (RVs) are frequently present in the airways of patients with cystic fibrosis (CF) during pulmonary exacerbations (PEx). Method and Objectives This prospective, longitudinal study was performed to examine the role of RVs in acute exacerbations in children with CF. Sputum samples or additional midturbinate swabs were tested from all children using a polymerase chain reaction panel. The primary aims of the study were to determine the prevalence and etiologic role of RVs in exacerbations of CF and to compare changes with RV‐positive and RV‐negative infections. The secondary aims were to determine the predictive factors for RV‐related exacerbations. Results From 50 patients with PEx, 23 (48.9%) sputum samples were virus‐positive. With a combination of sputum and swab, viral positivity increased to 56%. The virus‐positive group presented more frequently with hypoxia (oxygen saturation <93%) than the virus‐negative group (P = .048). Virus‐positive exacerbations were not associated with an increase in colonization rates or greater lung function decline over 12 months. Conclusions RVs frequently present during PEx of CF. However, predicting viral infections is difficult in this group. Only the presence of hypoxia may raise the suspicion of an accompanying viral agent. The combination of sputum and nasal swab samples increases the diagnostic yield in viral infections of CF. Despite their high frequency, the presence of RVs had no impact on clinical outcomes, such as a decline in lung function and increased colonization rates.

The objectives are to explore the demographic and polysomnographic features of children with Down syndrome and to determine the predictive factors associated with severe sleep apnea. A total of 81 children with Down syndrome referred for full-night polysomnography were analyzed. In addition, parental interviews were performed for each child. Data were available for 81 children, with a mean age of 4.8 years. Severe obstructive sleep apnea was determined in 53.1%. Age, sex, exposure to second-hand smoke, clinical findings, anthropometric features, and the presence of comorbidities were not predictors of severe obstructive sleep apnea. Children who were exposed to second-hand smoke had more sleep-related symptoms. Even in children without symptoms, the prevalence of severe obstructive sleep apnea was 40%. Moreover, 86% of parents had no previous information regarding possible sleep breathing disorders in their children. Clinically significant central apnea was present in 10 patients (12.3%). Conclusion : Our results demonstrate that severe obstructive sleep apnea is common in children with Down syndrome, even in children without a history of symptoms of sleep apnea. It is not possible to predict patients with severe apnea; thus, screening of children with Down syndrome beginning from young ages is very important. Central apneas could be a part of the spectrum of sleep abnormalities in Down syndrome.

BackgroundMany possible underlying causes can be seen in children with unexplained peripheral eosinophilia (UPE) with suspected pulmonary involvement. Here, we aimed to demonstrate the clinical characteristics and diagnoses of children evaluated for UPE who underwent diagnostic bronchoscopy.MethodsThirty‐one children who underwent diagnostic bronchoscopy for UPE between 2006–2018 were included. Demographic characteristics, bronchoscopy findings and final diagnosis, and treatments were evaluated.ResultsThe median age at the time of diagnosis was 5 (0.25–17.5) years. The final diagnoses of 26 patients were as follows: immunodeficiency (n = 6); hyper‐IgE syndromes (n = 4), DOCK8 deficiency + HES (idiopathic hypereosinophilic syndrome; n = 1), and severe combined immunodeficiency (n = 1), HES (n = 3), idiopathic chronic eosinophilic pneumonia (ICEP; n = 3), idiopathic pulmonary hemosiderosis (n = 1), B cell lymphoma (n = 1). In one child, an integrin α3 mutation + cytomegalovirus (CMV) pneumonia was detected. Congenital pneumonia was found in one patient, and parasitic infection in another. In two, eosinophilia was attributed to underlying asthma and atopy. In four, the underlying reasons could not be elucidated. Two children with HES and one with ICEP were lost to follow‐up. There was no significant relationship between the peripheral eosinophil count at the time of diagnosis and the percentage of bronchoalveolar lavage eosinophils (BAL). Bronchoscopy contributed to the management of 14 (53.9%) patients.ConclusionsBronchoscopy has potential diagnostic contribution in patients with UPE suspected of having pulmonary involvement. Numerous various underlying causes may be present in this patient group. There is no relation between peripheral eosinophil count and BAL eosinophil percentage.