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

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dc.contributor.authorGursoy, Tugba Ramasli
dc.contributor.authorAslan, Ayse Tana
dc.contributor.authorAsfuroglu, Pelin
dc.contributor.authorEyuboglu, Tugba Sismanlar
dc.contributor.authorCakir, Erkan
dc.contributor.authorCobanoglu, Nazan
dc.contributor.authorPekcan, Sevgi
dc.date.accessioned2024-02-23T14:24:36Z
dc.date.available2024-02-23T14:24:36Z
dc.date.issued2022
dc.departmentNEÜen_US
dc.description.abstractBackground 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.en_US
dc.identifier.doi10.1111/ped.14888
dc.identifier.issn1328-8067
dc.identifier.issn1442-200X
dc.identifier.issue1en_US
dc.identifier.pmid34131975en_US
dc.identifier.scopus2-s2.0-85126389067en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.urihttps://doi.org/10.1111/ped.14888
dc.identifier.urihttps://hdl.handle.net/20.500.12452/14029
dc.identifier.volume64en_US
dc.identifier.wosWOS:000773332400001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofPediatrics Internationalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectClinical Featuresen_US
dc.subjectCystic Fibrosisen_US
dc.subjectImmunoreactive Trypsinogenen_US
dc.subjectNewborn Screeningen_US
dc.subjectSweat Chloride Testen_US
dc.titleClinical findings of patients with cystic fibrosis according to newborn screening resultsen_US
dc.typeArticleen_US

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