Clinical findings of patients with cystic fibrosis according to newborn screening results.

Autor: Ramasli Gursoy T; Department of Pediatric Pulmonology, Gazi University Faculty of Medicine, Ankara, Turkey., Aslan AT; Department of Pediatric Pulmonology, Gazi University Faculty of Medicine, Ankara, Turkey., Asfuroglu P; Department of Pediatric Pulmonology, Gazi University Faculty of Medicine, Ankara, Turkey., Sismanlar Eyuboglu T; Department of Pediatric Pulmonology, Gazi University Faculty of Medicine, Ankara, Turkey., Cakir E; Department of Pediatric Pulmonology, Bezmialem University Faculty of Medicine, Istanbul, Turkey., Cobanoglu N; Department of Pediatric Pulmonology, Ankara University Faculty of Medicine, Ankara, Turkey., Pekcan S; Department of Pediatric Pulmonology, Meram Medicine Faculty, Necmettin Erbakan University, Konya, Turkey., Cinel G; Department of Pediatric Pulmonology, Ministry of Health Ankara City Hospital, Ankara, Turkey., Dogru D; Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Ozcelik U; Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Yalcin E; Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Sen V; Department of Pediatric Pulmonology, Dicle University Faculty of Medicine, Diyarbakir, Turkey., Ercan O; Department of Pediatric Pulmonology, Meram Medicine Faculty, Necmettin Erbakan University, Konya, Turkey., Kilinc AA; Department of Pediatric Pulmonology, Istanbul University Cerrahpasa Medicine Faculty, Istanbul, Turkey., Yazan H; Department of Pediatric Pulmonology, Bezmialem University Faculty of Medicine, Istanbul, Turkey., Altintas DU; Department of Pediatric Allergy and Immunology, Cukurova University Faculty of Medicine, Adana, Turkey., Kartal Ozturk G; Department of Pediatric Pulmonology, Ege University Faculty of Medicine, Izmir, Turkey., Bingol A; Department of Pediatric Allergy and Immunology, Akdeniz University Faculty of Medicine, Antalya, Turkey., Sapan N; Department of Pediatric Allergy and Immunology, Bursa Uludag University Faculty of Medicine, Bursa, Turkey., Celebioglu E; Department of Chest Diseases, Hacettepe University Faculty of Medicine, Ankara, Turkey., Tugcu GD; Department of Pediatric Pulmonology, Ministry of Health Ankara City Hospital, Ankara, Turkey., Ozdemir A; Department of Pediatric Pulmonology, Ministry of Health Mersin City Hospital, Mersin, Turkey., Harmanci K; Department of Pediatric Allergy and Immunology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey., Kose M; Department of Pediatric Pulmonology, Erciyes University Faculty of Medicine, Kayseri, Turkey., Emiralioglu N; Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Tamay Z; Department of Pediatric Allergy, Istanbul University Faculty of Medicine, Istanbul, Turkey., Yuksel H; Department of Pediatric Allergy and Immunology, Celal Bayar University Faculty of Medicine, Manisa, Turkey., Ozcan G; Department of Pediatric Pulmonology, Ankara University Faculty of Medicine, Ankara, Turkey., Topal E; Department of Pediatric Allergy, Inonu University Faculty of Medicine, Malatya, Turkey., Can D; Department of Pediatric Pulmonology, Balikesir University Faculty of Medicine, Balikesir, Turkey., Korkmaz Ekren P; Department of Chest Diseases, Ege University Faculty of Medicine, Izmir, Turkey., Caltepe G; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey., Kilic M; Department of Pediatric Allergy and Immunology, Firat University Faculty of Medicine, Elazig, Turkey., Ozdogan S; Department of Pediatric Pulmonology, Sisli Hamidiye Etfal Research and Training Hospital, Istanbul, Turkey.
Jazyk: angličtina
Zdroj: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2022 Jan; Vol. 64 (1), pp. e14888.
DOI: 10.1111/ped.14888
Abstrakt: 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.
(© 2021 Japan Pediatric Society.)
Databáze: MEDLINE
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