Year: 2021
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Cystic fibrosis (CF) is a lethal recessive genetic disease caused by loss of function associated with mutations in the CF trans-membrane conductance regulator. It is highly prevalent (approximately 1 in 3,500) in Caucasians. The aim of this study was to compare demographic and clinical features, diagnostic tests, treatments, and complications of patients with CF whose newborn screening (NBS) with twice-repeated immune reactive trypsinogen testing was positive, normal, and not performed. METHODS: In this study, 359 of all 1,488 CF patients recorded in the CF Registry of Turkey in 2018, who had been born through the process of NBS, were evaluated. Demographic and clinical features were compared in patients diagnosed with positive NBS (Group 1), normal (Group 2), or without NBS (Group 3). RESULTS: In Group 1, there were 299 patients, in Group 2, there were 40 patients, and in Group 3, there were 20 patients. Among all patients, the median age at diagnosis was 0.17 years. The median age at diagnosis was higher in Groups 2 and 3 than in Group 1 (P = 0.001). Fecal elastase results were higher in Group 2 (P = 0.033). The weight z-score was lower and chronic Staphylococcus aureus infection was more common in Group 3 (P = 0.017, P = 0.004, respectively). CONCLUSIONS: Frequency of growth retardation and chronic S. aureus infection can be reduced with an early diagnosis using NBS. In the presence of clinical suspicion in patients with normal NBS, further analyses such as genetic testing should be performed, especially to prevent missing patients with severe mutations.
Source: Pediatrics International
DOI: 10.1111/ped.14888
Authors: Tugba Ramasli Gursoy, Ayse Tana Aslan, Pelin Asfuroglu, Tugba Sismanlar Eyuboglu, Erkan Cakir, Nazan Cobanoglu, Sevgi Pekcan, Guzin Cinel, Deniz Dogru, Ugur Ozcelik, Ebru Yalcin, Velat Sen, Omur Ercan, Ayse Ayzit Kilinc, Hakan Yazan, Derya Ufuk Altintas, Gokcen Kartal Ozturk, Aysen Bingol, Nihat Sapan, Ebru Celebioglu, Gokcen Dilsa Tugcu, Ali Ozdemir, Koray Harmanci, Mehmet Kose, Nagehan Emiralioglu, Zeynep Tamay, Hasan Yuksel, Gizem Ozcan, Erdem Topal, Demet Can, Pervin Korkmaz Ekren, Gonul Caltepe, Mehmet Kilic, Sebnem Ozdogan
Institutions: Gazi University, Bezmiâlem Vakıf Üniversitesi, Ankara University, Necmettin Erbakan University, Ministry of Health, Hacettepe University, Dicle University, Istanbul University-Cerrahpaşa, Istanbul University, Cukurova University, Ege University, Akdeniz University, Bursa Uludağ Üni̇versi̇tesi̇, Eskişehir Osmangazi University, Erciyes University, Manisa Celal Bayar University, Inonu University, Balıkesir University, Ondokuz Mayıs University, Fırat University, Şişli Etfal Eğitim ve Araştırma Hastanesi
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W3166432011