ABSTRACT
Introduction-Objective: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease predominantly with antibody deficiency and characterized by recurrent pyogenic infections, absence of B cells and agammaglobulinemia. In this study, it is aimed to review the demographic data of our XLA patients and examine the frequency of severe bacterial and mild infections and benefits of immunoglobulin replacement therapies to reduce the rate of infections. In addition, correlations between genotypic results and clinical and laboratory findings were searched. PATIENTS AND METHODS: In this study, 20 patients who were followed-up between 1995-2019 and diagnosed with XLA by flow cytometric and genetic tests were included. Demographic data, symptoms at admission and follow-up, laboratory data and radiologic imaging findings, previous infections, immunoglobulin replacement treatments, and genetic analysis results of the patients were recorded. RESULTS: All patients in the study were male and the mean age of onset of symptoms was 60 months. The mean age at diagnosis was 72 months. A total of 19 different mutations were identified in the Bruton-tyrosine kinase gene, six of them were novel. Our eldest patient was 34 years old and the longest follow-up period was 24 years. Respiratory tract infections were the most common in the patients, only 35% of the causative agents were found in sputum cultures and H. influenzae type b (57.8%) was isolated most frequently. Both intravenous and subcutaneous immunoglobulin replacement therapies significantly reduced the number of severe bacterial infections and other mild infections. CONCLUSION: XLA is a rare pediatric primary immunodeficiency disease and affected individuals require lifelong immunoglobulin replacement therapy. Immunoglobulin replacement prevents life-threatening infections and dramatically increases survival rates. The patients with regular treatment and follow-up, reach adulthood and has a high quality of life.
ABSTRACT
AIM: Recurrent wheezing is a common problem in preschool children.It is classified into two groups because there can be many reasons for wheeze: typical and atypical. The aim of this study was to identify the general features of atypical wheezy children. MATERIAL AND METHODS: Three hundred two children who presented to our clinic between 2000 and 2015 for three or more wheezing attacks and were diagnosed as having an underlying disease such as bronchiectasis, foreign body aspiration, recurrent aspiration pneumonia, cystic fibrosis, bronchopulmonary dysplasia, congenital anomalies, and tuberculosis, were included in the study. RESULTS: In this study, 127 (42.1%) girls and 175 (57.9%) boys were evaluated. The diagnostic distribution of the patients was as follows: bronchopulmonary dysplasia (21.9%), bronchiolitis obliterans (16.6%), bronchiectasis (14.5%), bronchiolitis obliterans + primary immunodeficiency (12.3%), cystic fibrosis (10.3%), bronchiectasis + primary immunodeficiency (7.9%), recurrent aspiration pneumonia (3.6%) and foreign body aspiration (3.3%), and other diseases (9.6%). Mosaic oligemia, bronchiectasis, atelectasis, bronchiolectasis, and small airway disease were the most distinct findings on high-resolution lung tomography. When the patients were evaluated clinically, radiologically, and according to pulmonary functions after an average period of 40 months, it was seen that 9.2% deteriorated, 33.9% regressed, and 56.7% remained stable. Presentation to hospital after the first attack occurred earlier in patients with bronchopulmonary dysplasia, bronchiolitis obliterans and bronchiolitis obliterans + primary immunodeficiency compared with patients with bronchiectasis, bronchiectasis + primary immunodeficiency, and cystic fibrosis. When presentation time and outcomes were evaluated, it was found that 63.4% of patients who presented to hospital early (0-6 months) and 7.5% of patients who presented late (after 5 years) had regression. CONCLUSION: Recurrent wheezy children must be promptly evaluated for an underlying disease. Early diagnosis and treatment influence the prognosis.
