Demographic characteristics of patients who received cystic fibrosis diagnosis

Objective: Cystic fibrosis (CF) occurs as a result of a recessive mutation in the gene that codes the Cystic Fibrosis Transmembrane Regulator (CFTR) protein, which functions as the transmembrane chloride channel in the epithelium of multiple organs. It is a multisystemic disease that specifically concerns children but also CF frequency is increasing in adults in recent years. Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians. The frequency of the disease is approximately 1/2.500-1/3.000 in Caucasians and 1/1.700 in African Americans. Gurson et al. were eported in their study CF incidence is 1/3.000 for our country. In our study we aim to evaluated demographic characteristics of cases the patients whom received CF diagnosis to emphasize important matters to consider during the diagnosis and follow up period of this difficult-to-identify disease. Materials and Methods: A retrospective study was conducted in 45 patients who following with CF diagnosis in to Dokuz Eylul University Hospital Department of Pediatric Allergy and Immunology Clinic. We searched the cases medical records.The aim was to evaluate their determine demographic characteristics and the follow-up process. In all of the patients files searched for gender, cause of first applications, pancreatic insufficiency, mutations, sweat tests, age at diagnosis, lab results, nutiritonal status, pulmonary function tests (PFT) of patients that who could cooperate, microorganisms grown in throat/mucus/BAL cultures, chest radiography results (chest CT results of available), abdominal ultrasonography results and echocardiography. Complications as a result of CF, hospitalization history and treatment procedures have been examined. Results: The cases were most frequently diagnosed at the age of 1 and the median diagnosis age was calculated as nine months. Bronchovascular markings were detected most frequent abnormal finding of chest radiography taken at diagnosis time in most of cases. The most common microorganisms from the throat/sputum/BAL cultures obtained at diagnosis were P. aeruginosa and H. influenza, respectively. P. aeruginosa colonization was identified in 31 cases (68.9%) and S. Aureus colonization was identified in 25 cases (55.6%). Mutation analysis was performed for all cases and F508del mutation was identified to be the most frequent. Abdominal ultrasonography was shown most commonly hepatosteatosis and cholelithiasis, while pulmonary CT was shown bronchiectasis. Most commonly, respiratory and gastrointestinal system complications were detected. Not statisticly significant difference were seen between nutritional status and genetic mutations of the patients and the level of pulmonary damage. FEV1% of the cases with P. aeruginosa colonization were found to be lower. There was no statisticly significant difference between either genetic F508 del mutation or deterioriation of nutritional status and P. aeruginosa colonization. Nowadays, CF is no longer a childhood disease but an illness that also concerns adults too. Early diagnosis and new treatment procedures improve survival and the quality of life for patients. Key words: Cystic Fibrosis