BackgroundHermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce.MethodsSix children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded.ResultsPulmonary symptoms including dyspnea, coughing, need for oxygen, and clubbing started 3.3 years before the diagnosis was made at the mean age of 8.83 years (range 2-15). All children had recurrent pulmonary infections, 3 had a spontaneous pneumothorax, and 4 developed scoliosis. The frequency of pulmonary complaints increased over time. The leading radiographic pattern was ground-glass opacities with a rapid increase in reticular pattern and traction bronchiectasis between initial and follow-up Computer tomography (CT) in all subjects. Honeycombing and cysts were newly detectable in 3 patients. Half of the patients received a lung biopsy for diagnosis; histological patterns were cellular non-specific interstitial pneumonia, usual interstitial pneumonia-like, and desquamative interstitial pneumonia.ConclusionsHPS-2 is characterized by a rapidly fibrosing lung disease during early childhood. Effective treatments are required.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0780-z) contains supplementary material, which is available to authorized users.
Background:In asthmatic airways secondary ciliary dyskinesia contributes to impaired mucociliary clearance. To investigate underlying mechanisms, we studied the effects of cytokines associated with asthma phenotype on the ciliary beat frequency (CBF) in a cell culture model of ciliated human respiratory epithelial cells. Methods: Nasal respiratory epithelial cells of 21 patients were used to prepare multicellular cells (spheroids) in the presence of the T helper (TH) 2 cytokines interleukin (IL)-4, IL-5, IL-9 and IL-13, and the TH1 cytokine interferon gamma (IFN-γ). CBF was determined by high-speed video microscopy. results: Addition of IL-4 and IL-13 and IL-4 + IL-13 decreased the mean CBF by 17, 21, and 22%, respectively, compared with untreated controls. Addition of IL-5 and IL-9 lead to an increase in mean CBF (20 and 10%, respectively). Lower concentrations of IFN-γ (0.1 and 1 ng/ml) decreased mean CBF and higher concentrations (10 ng/ml) increased CBF by 6%. Addition of IFN-γ to IL-13 reversed the effect of IL-13 on the CBF of spheroids. conclusion: Cytokines directly influence the ciliary function of respiratory epithelium and contribute to the impaired mucociliary clearance in asthmatic disease. Our study encourages further research to investigate IFN-γ as a treatment option in diseases with impaired mucociliary clearance like asthma.
Background: Lower respiratory tract infections (LRIs) are a major cause of hospitalization for children and adolescents with a tracheostomy. The aim of this study was to identify risk factors for LRI. Methods: In this retrospective study, we assessed the number of LRI and hospitalizations for LRI from 2004 to 2014 at the University Hospital Muenster Pediatric Department. We analyzed associations between LRI and clinical findings, and we cultured pathogens in tracheal aspirates (TAs) during noninfection periods. Univariable and multivariable negative, binomial regression analyses were applied to identify associations between possible risk factors and LRI. Results: Seventy-eight patients had 148 LRI, of which 99 were treated in hospital. The median number of LRI per year was 0.4. Six-hundred thirteen pathogens were detected in 315 specimens; Staphylococcus aureus (22.5%), Pseudomonas aeruginosa (14.8%) and Haemophilus influenzae (6.2%) were most frequently detected. Acinetobacter baumannii is an independent risk factor for LRI (rate ratio, 1.792; P = 0.030) and hospital admissions for LRI (rate ratio, 1.917; P = 0.011). Conclusions: Children with a tracheostomy have frequent LRI. A. baumannii but not P. aeruginosa or S. aureus in TA is a risk factor for LRI in children with a long-term tracheostomy. This supports repetitive culture of TA for microbiologic workup to identify children and adolescents with an increased risk for LRI.
HFCWO can have a short-term decreasing effect on the LCI, but the treatment response is heterogeneous. In future trials using LCI as an endpoint, the timing of CP in relation to MBW should be considered a possible bias.
Background: Cough is a key symptom in patients with cystic fibrosis (CF) and primary ciliary dyskinesia (PCD). Objective: The study objectives were to test whether cough is related to parameters reflecting their disease severity and whether CF and PCD differ in cough frequency. Methods: In this prospective observational study, we used a microphone-based monitoring system (LEOSound® Monitor) to count the coughs in healthy subjects (HS) and in stable patients with CF and PCD (25 subjects per group) on 2 consecutive nights. Results: The median number of coughs/h in the HS, CF, and PCD groups was 0.0, 1.3, and 0.5 on the first night and 0.0, 2.3, and 0.2 on the second night, respectively. Patients with CF and PCD coughed more than HS (p < 0.001 and p = 0.009, respectively) and CF patients coughed more than PCD patients (p = 0.023). A multivariable mixed model analysis revealed forced expiratory volume in 1 s as an independent risk factor for increased cough frequency in patients. The reliability for repeated measurements was higher for cough epochs/h than for coughs/h (intraclass correlation coefficient: 0.75 and 0.49, respectively). Conclusions: Patients with CF cough more than patients with PCD. The cough frequency in CF and PCD is associated with parameters reflecting disease severity. Cough frequency is a possible endpoint in clinical trials and cough epochs/h may be more useful than coughs/h.
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