1. Clinical findings of patients with cystic fibrosis according to newborn screening results
- Author
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Nagehan Emiralioglu, Ali Özdemir, Ömür Ercan, Gönül Çaltepe, Sevgi Pekcan, Ayse Tana Aslan, Gizem Özcan, Hasan Yuksel, Deniz Dogru, Pervin Korkmaz Ekren, Ugur Ozcelik, Zeynep Tamay, Sebnem Ozdogan, Ayse Ayzit Kilinc, Koray Harmanci, Guzin Cinel, Mehmet Köse, Ayşen Bingöl, Gökçen Kartal Öztürk, Pelin Asfuroglu, Nazan Cobanoglu, Ebru Yalcin, Demet Can, Tugba Ramasli Gursoy, Velat Şen, Erdem Topal, Tugba Sismanlar Eyuboglu, Derya Ufuk Altintas, Nihat Sapan, Mehmet Kilic, Ebru Celebioglu, Gokcen Dilsa Tugcu, Erkan Cakir, Hakan Yazan, ÇAKIR, Erkan, Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı, and Şen, Velat
- Subjects
Newborn screening ,Sweat chloride test ,Staphylococcus aureus ,medicine.medical_specialty ,clinical features ,Genotype ,Trypsinogen ,Cystic fibros ,Cystic Fibrosis Transmembrane Conductance Regulator ,immunoreactive trypsinogen ,Disease ,Cystic fibrosis ,Gastroenterology ,cystic fibrosis ,Isimmunoreactive trypsinogen ,chemistry.chemical_compound ,Neonatal Screening ,Aureus infection ,sweat chloride test ,Internal medicine ,Diagnosis ,medicine ,Humans ,Immunoreactive trypsinogen ,In patient ,official journal of the Japan Pediatric Society, 2021 [Ramasli Gursoy T., Aslan A. T. , Asfuroglu P., Sismanlar Eyuboglu T., Cakir E., Cobanoglu N., Pekcan S., Cinel G., Dogru D., Ozcelik U., et al., -Clinical findings of patients with cystic fibrosis according to newborn screening results.-, Pediatrics international] ,Staphylococcus-Aureus ,Genetic testing ,medicine.diagnostic_test ,newborn screening ,business.industry ,Infant, Newborn ,Clinical features ,medicine.disease ,Worse Outcomes ,chemistry ,Pediatrics, Perinatology and Child Health ,business - 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.
- Published
- 2022