Idiopathic pleuroparenchymal fibroelastosis (IPPFE) is a rare disorder recently included in rare idiopathic interstitial pneumonias according to the updated American Thoracic Society/European Respiratory Society classification. IPPFE is characterized by pleural and subpleural parenchymal fibrosis causing volume loss predominantly in the upper lung lobes. Age of onset is variable, IPPFE mainly occurs in third and fourth decades. We present a 16 year old patient with a 2-year history of exertional dyspnea, nonproductive cough and weight loss. On physical examination, auscultation revealed diminished breath sounds on the upper lobes. Chest radiograph showed apical pleural thickening and volume loss. Computerized tomographic scan (CT) of chest revealed ground glass densities and tubular bronchiectasis predominantly in upper lobes bilaterally, with interlobular septal thickening of the pleura and enlarged mediastinal lymph nodes. Thoracoscopic lung biopsy was performed and histological evaluation showed subpleural fibrosis and elastic staining demonstrated fragmented elastic fiber deposition in the subpleural area and adjacent pulmonary parenchyma suggesting IPPFE. To our knowledge this is the first case in childhood. Therefore, pediatricians should be aware of this disease for the diagnosis and appropriate management.La fibroelastosis pleuroparenquimatosa idiopàtica (FEPPI) es un trastorno raro incluido recientemente en las neumonías intersticiales idiopáticas según la actualización de la clasificación de la Sociedad Torácica Estadounidense (American Thoracic Society) y la Sociedad Respiratoria Europea (European Respiratory Society). La FEPPI se caracteriza por fibrosis parenquimatosa pleural y subpleural que produce reducción del volumen, sobre todo en los lóbulos pulmonares superiores. La edad al momento de la aparición varía, aunque la FEPPI ocurre principalmente entre los 30 y los 50 años de edad. En este artículo, presentamos el caso de un paciente de 16 años con antecedentes de disnea de esfuerzo, tos seca y pérdida de peso en los últimos dos años. Durante el examen físico, con la auscultación se detectó disminución de los ruidos respiratorios en los lóbulos superiores. En la radiografía de tórax se observó engrosamiento pleural apical y volumen reducido. En la tomografia computarizada (TC) del tórax se observaron densidades en vidrio esmerilado y bronquiectasia tubular predominantemente en ambos lóbulos superiores, con engrosamiento septal interlobulillar de la pleura y adenopatía mediastínica. Se realizó una biopsia pulmonar por toracoscopia y en el examen histológico se observaron fibrosis subpleural y tinción de las fibras elásticas que demostraba depósito de fibras elásticas en el área subpleural y el parénquima pulmonar adyacente, lo que sugería FEPPI. Hasta donde sabemos, este es el primer caso durante la niñez. Por lo tanto, los pediatras deben estar atentos a esta enfermedad para realizar un diagnóstico y tratamiento adecuados.
Introduction: Tracheostomy care in children may be challenging, due to lack of knowledge of health care providers. The aim of this study was to determine the level of knowledge of health care providers who follow patients with tracheostomy and to increase this level with theoretical education and training in a simulation laboratory. Materials and Methods: Volunteer participants were subjected to a theoretical pretest which evaluated their knowledge level for the care, follow-up and treatment of patients with tracheostomy. Then, practical testing with three subheadings evaluating the change of the tracheostomy cannula was applied. After theoretical training and one-on-one practical training given to the participants with a simulation model, theoretical and practical posttests were applied. Results: Fifty-one health care providers from six tertiary pediatric clinics in Istanbul were enrolled in the educational course. Only 6 (11.8%) of them received standardised training programme previously. Regarding the theoretical tests, seven of the 33 questions were indicated as crucial. The knowledge level of the participants based on the crucial questions significantly increased after the training (p value <0.05 for all of the crucial questions). Total number of correct answers and correct answers of 3 subheadings also significantly increased after the practical training (p value <0.001 for all). Ninety-five percent of the participants assessed the course as good or excellent. Conclusion: Training in simulation laboratory together with theoratical education can improve the knowledge and skills of the health care providers enabling improved care of children with tracheostomy.
Introduction: Empyema is an exudative type pleural effusion secondary to lung infections. Pulmonary function tests (PFTs) are used in measuring the function and volume of the lungs, diagnosing and grading diseases, and evaluating the response to treatment. Our aim was to evaluate pulmonary function in patients previously treated with empyema and compare it with age-matched healthy controls. Materials and methods: This is a controlled cross-sectional study evaluating the PFTs in twenty-one children previously managed for empyema and 40 controls. Spirometry and lung clearence index (LCI) tests were used to compare both groups. Demographic data, history of previous lung disease, physical examination findings, diagnostic method and treatment regimens were recorded. Results: Of the 21 patients, 7 (33.3%) were female and 14 (66.6%) were male. The mean age was 9.4 ±4.5 years. The most common presentation findings were high fever (95.2%), tachypnea (85.7%) and cough (85.7%). Empyema was on bilateral lungs in 9 (42.9%) patients, on the right in 8 (38.1%) patients and on the left in 4 (19%) patients. In spirometric examination, the mean forced expiratory volume (FEV1) % predicted was 93.76 ±11.78%, the mean FEV1 z score was -0.24 ±0.79 and no significant spirometric disorder was observed. The mean LCI value of the patients was 7.50 ±0.72, which was significantly higher than the control group (6.97 ±0.75) (p: 0.003). Conclusion: In the long-term follow-up of patients with empyema, airway disease that could not be detected by spirometry developed and LCI method was found to be superior to spirometry in detecting airway diseases.
Abstract Introduction Bronchiolitis obliterans (BO) is mainly caused by infections and hematopoietic stem cell transplantation (HSCT). This study aimed to investigate the health‐related quality of life (HRQOL) of children with BO compared to the healthy children and also to assess the HRQOL according to the etiology. Methods Postinfectious (group 1) and post‐HSCT BO (group 2) patients and healthy children were included in the study. HRQOL was assessed by the Short Form‐36 (SF‐36) and St George's Respiratory Questionnaire (SGRQ). Correlations between demographic and clinical characteristics, pulmonary function tests, high‐resolution chest tomography scores, and HRQOL were assessed. Results Thirty‐seven postinfectious and post‐HSCT BO patients and 34 healthy children were included in the study. Mean age was 13.8 ± 0.7 years. Mean forced vital capacity and forced expiratory volume 1 were 60.7 ± 2.7% predicted, and 49.8 ± 3.1% predicted, respectively. The SF‐36 scores were lower in BO patients compared to healthy children ( P < .01). Patients with better lung functions had higher SF‐36 scores, but lower SGRQ. The number of inhaled therapies, acute exacerbations, hospitalizations were inversely correlated with SF‐36. A positive correlation was found between these parameters and total SGRQ scores ( r = .507, P = .02; r = .409, P = .12; r = .326, P = .049, respectively). SF‐36 scores were better in group 1 for subscales of physical role functioning and social role functioning compared to group 2. ( P = .01, P = .01, respectively). Conclusion The HRQOL of patients with BO measured by SF‐36 was low compared to healthy children. SF‐36 scores were more affected in post‐HSCT BO patients. HRQOL of children with chronic lung disease should be taken into consideration in the management of these patients.
Abstract Background Cystic fibrosis (CF) genotyping has garnered increased attention since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 led to the identification of over 1700 mutations on chromosome 7. Yet, little is known about the genetic profile of CF patients in Turkey. This study sought to determine the mutation distribution among CF patients seeking care at Marmara University. Methods Two hundred fifty previously diagnosed CF patients were included in the study. CFTR gene exons 1 to 27 were amplified by a polymerase chain reaction and whole DNA sequencing was performed. Duplications and deletions were investigated by the multiplex ligation‐dependent probe amplification (MLPA) technique in patients with one or two unidentified mutations in sequence analysis. Results CFTR mutation analysis revealed 80 mutations and five large deletions were present in our study population. The five most common mutations were (delta) F508 (c.1521‐1523delCTT) (28.4%), 1677delTA (c.1545‐1546delTA) (6.4%), 2789 + 5G‐ > A (c.2657 + 5G > A) (5.8%), N1303K (c.3909C > G) (2.4%), and c.2183AA‐ > G (c.2051‐2052delAAinsG) (4.0%). Large deletions were found in 16 patients. Four novel mutations and two novel deletions were detected in this study. Conclusions We have identified four novel mutations and two novel deletions using next‐generation DNA sequencing and the MLPA technique and obtained an overall mutation detection rate of 91.4%. Detection of novel variants in CF patients will assist in genetic counseling and in determining appropriate patients for new therapies.
Introduction: Bronchiolitis obliterans (BO) is mainly caused by infections and in certain cases after hematopoietic stem cell transplantation (HSCT). Aim of this study is to evaluate the quality of life (QoL) in children with BO. Methods: 23 BO (post infectious and HSCT) patients were included to the study. QoL was assessed by Short Form-36 (SF-36) and St George9s Respiratory Questionnaire (SGRQ). Correlation between demographic and clinical data of patients, pulmonary function tests (PFT) and QoL were assessed. Results: Mean age was 14,5±4,4 years, and follow up time was 7,6±4,9 years. Five of the patients (%21,7) had HSCT as the underlying etiology versus 18 (%78,3) had post infectious BO. QoL assessment, according to the SF-36, revealed a moderate correlation between FEV1 and social role functioning (r:0,43, p:0,04). FEV1 was found to be inversely correlated with SGRQ impact and total scores. Number of exacerbations were moderately correlated with SGRQ symptom scores and total scores (r:0,47, p:0,02). Number of hospital admissions were significantly correlated with SF-36 physical functioning, emotional role functioning, social role functioning and SGRQ symptom and total score. In HSCT group, hospital admissions within last year was significantly higher than the post infectious BO group (p:0,01).SF-36 physical role functioning and social role functioning scores were significantly lower in the HSCT group (p:0,01). Discussion: QoL measures were significantly reduced in BO patients. QoL was found to be decreased in patients with lower PFTs and increased number of hospital admissions. Early initiation of respiratory treatments and regular follow-up may improve the QoL in BO patients.
Background We hypothesize that Lung Clearance Index (LCI) would be superior to spirometry in diagnosing early-stage respiratory diseases earlier and, more precisely, in patients who received medical or surgical treatment for empyema. Methods Children over five diagnosed with empyema at least six months ago were recruited. In addition, a control group was created from healthy individuals between the ages of 5 to 18 years. Spirometry and LCI were performed in both groups. Results The spirometric values of the patients were compared with the spirometric values of the controls; there was no significant difference between the patient and control groups FEV1, FVC, and FEV1/FVC z scores results when compared. (p: 0.610, p: 0.342, p: 0.298; respectively). In addition, when the LCI 2.5% values of the patients were compared with the LCI 2.5% values of the controls and reference values, the LCI 2.5% was found to be significantly abnormal (p: 0.003 and p:0.005, respectively). Conclusion In the long-term follow-up of patients who received inpatient treatment for empyema, airway disease that could not be detected by spirometry was obtained using the LCI method.
Introduction: Interstitial lung disease (ILD) in childhood is a group of diseases characterized by interstitial and alveolar inflammation and fibrosis. Idiopathic pleuroparenchymal fibroelastosis (IPPFE) is a rare ILD which have not been reported in children. It is characterized by predominantly upper lobe pleural thickening and subpleural elastosis and intraalveolar collagenous fibrosis. Case: 15-year-old male presented with dry cough, exertional dyspnea and weight loss since two years. Physical examination revealed failure to thrive, and tachypnea with severe restriction (FVC 30%, FEV1 32%, FEV1 / FVC 109%) findings on pulmonary function test. Total lung capacity and CO diffusion capacity were low. Thorax tomography revealed pleural thickening and subpleural fibrosis mainly in the upper lobes and bronchiectasis. Interstitial lung disease was considered due to clinical and laboratory findings. Lung biopsy was performed. Histopathologic diagnosis was consistent with pleuroparenchymal fibroelastosis. Oral prednisolone was started and patient was referred to lung transplantation clinic. He is currently followed with supportive treatment. Conclusion: Although interstitial lung disease is rare in childhood it must be considered in children with chronic cough, exertional dyspnea, persistent tachypnea, failure to thrive and diffuse radiologic findings. This case showed that idiopathic pleuroparenchymal fibrosis can present during childhood.
