Evaluationof cystic fibrosis patients diagnosed by neonatal screening program at the cystic fibrosis of Dicle University Medical Faculty

Introduction: Cystic fibrosis is an autosomal recessive genetic disorder that is commonly found in Caucasians. Its incidence may vary between populations and was detected approximately in 1 out of 2000-3,500 live births. No proven data associated with its incidence in our country is available. Its incidence was estimated 1/3000 live births in our country. However, actual incidence of CF may be higher than estimated levels since especially consanguineous marriage is very prevalent in our country. Cystic fibrosis is caused by malfunctioning of a small chloride channel, the cystic fibrosis transmembrane conductance regulator (CFTR) that is found in the apical membrane of epithelial cells lining exocrine glands therefore it may affect all exocrine glands. Purpose: We have aimed to determine 3-year incidence of CF in Diyarbakır, the parameters of the patients such as genders, ages at diagnosis, body weights (BW) and heights at the time of diagnosis, Body Mass Index (BMI), Z scores of body weight (BW) and heights, results of genetic mutations, baseline complaints, number of admissions in the Clinic of Pediatric Pulmonary Diseases and Pediatric Intensive Care Unit, fecal elastase results, microbial growth at bronchoalveolar lavage (BAL) and sputum culture tests, antimicrobial susceptibility / resistance profiles of these microorganisms, administered medications, inbreeding status between mother and father, presence of another patient with cystic fibrosis, places of residence for the patients from from the neighboring provicens and laboratory parameters. Method: We have performed 59 patients who applied to The Department of Pediatric Health and Diseases, Cystic Fibrosis Center, The Department of Pediatric Pulmonary Diseases from Diyarbakır and neighboring provinces, and diagnosed with cystic fibrosis due to detected elevated levels of immunoreactive trypsinogen (IRT) by heel prick test applied in the context of Neonatal Screening Program (NSP) between 1st January 2015 and 1st 2018. Results: Annual incidence of cystic fibrosis for Diyarbakir was found 1/4205. Of the patients; 55.9% were male and 44.1% were female while M/F was 1.26. The least and greatest ages at the time of diagnosis were respectively one month and 12 months of age while 6 months of age was the most common age by 83.1% at the time of diagnosis. Of the patients, 44.1% were from Diyarbakır while rest of the patients were from the neighboring provinces such as Batman, Siirt, Şırnak and Mardin. The rate of consanguineous marriage was 83.1% between the parents of the patients. Thirty-nine point one percent of the patients were asymptomatic at the time of diagnosis. %39.1 yazıyla mı yazıyor. The complaints of growth and developmental retardation and respiratory systems were present in 22.1% and 18.7% of the patients, respectively. Hypoalbuminemia, elevated levels of LFT, electrolyte imbalance, D-vitamin deficiency, anemia and impaired levels of blood gases were encountered in 18%, 37,2%, 16.9%, 15.2%, 23% and 28.8% of the patients, respectively. F508del mutation in the CFTR gene was the most frequently encountered genetic defect by 21.7% in the patients. Dornase alfa, pancreatic enzyme replacement therapy, multivitamin supplementation, inhaled corticosteroid and/or inhaled beta 2 agonist, salt supplementation and enteral nutrition therapy (Formula) were administered in 64.4%, 55.9%, 62.7%, 33.9%, 18.6% and 47.5% of the patients, respectively. The microorganisms that grew in the sputum and throat cultures were respectively S. aureus(16.9%), P. aeuroginosa(11.9%) and K. pneumonia(5.1%) based on the frequencies. Mean numbers of admission numbers in the Pediatric Pulmonary Diseases ward and Pediatric Intensive Care unit were 4.67(±4.36) and 0.1(±-0.4) in the patients, respectively. Conclusion: Since The Cystic Fibrosis Center of our hospital is the unique center in our region and all the patients diagnosed with elevated IRT from the neighboring provinces also come to our center, consequently the number of the patients is progressively increasing. All the patients were diagnosed before 1 year of age because we included only the patients encounterded with positive IRT in the context of neonatal screening program. Most of the patients (83.1%) were diagnosed within the first 6 month of age. As a consequence of this condition, our patients were predominantly diagnosed without revealing a symptom. Erly diagnosis of the patients by neonatal screening program will provide elevation in their life quality and reduction in morbidity and mortality rates. This advantage will contribute to the reduced numbers of hospital stays and prolong their lifetime. While the rate of consanguineous marriages is high in Turkey, this rate extremely increases. Therefore we estimate a higher frequency for genetically inherited cystic fibrosis. We have found an incidence of cystic fibrosis by 1/4205 below the estimated level in our study. We have interpreted that lower incidence than estimated level may be resulting from lack of data on 2015 year in the present study, insufficient awareness about neonatal screening program currently or insufficent education of the families on this topic. We have detected F508del mutation in the CFTR gene as the most common genetic defect (21.7%) in our patients compatibly with mean prevalence rates in Turkey. However, this incidence rate is lower than the western populations. As a consequence, neonatal screening program facilitates early diagnosis of the patients with cystic fibrosis and is crucially important for elevating life quality and lifetime of the patients.