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

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dc.authorid0000-0002-9232-5982en_US
dc.contributor.authorGürsoy, Tuğba Ramaslı
dc.contributor.authorAslan, Ayşe Tana
dc.contributor.authorAsfuroğlu, Pelin
dc.contributor.authorEyüboğlu, Tuğba Şişmanlar
dc.contributor.authorÇakır, Erkan
dc.contributor.authorÇobanoğlu, Nazan
dc.contributor.authorŞen, Velat
dc.date.accessioned2023-03-23T10:57:20Z
dc.date.available2023-03-23T10:57:20Z
dc.date.issued2022en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_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.citationGürsoy, T.R., Aslan, A.T., Asfuroğlu, P., Eyüboğlu, T.Ş., Çakır, E., Çobanoğlu, N. ve diğerleri. (2022). Clinical findings of patients with cystic fibrosis according to newborn screening results. Pediatrics International, 64(1), e14888.en_US
dc.identifier.doi10.1111/ped.14888
dc.identifier.endpage8en_US
dc.identifier.issn1328-8067
dc.identifier.issn1442-200X
dc.identifier.issue1en_US
dc.identifier.pmid34131975
dc.identifier.scopus2-s2.0-85126389067
dc.identifier.scopusqualityQ3
dc.identifier.startpage1en_US
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/epdf/10.1111/ped.14888
dc.identifier.urihttps://hdl.handle.net/11468/11502
dc.identifier.volume64en_US
dc.identifier.wosWOS:000773332400001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorŞen, Velat
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofPediatrics International
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectClinical featuresen_US
dc.subjectCystic fibrosen_US
dc.subjectIsimmunoreactive 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.titleClinical findings of patients with cystic fibrosis according to newborn screening results
dc.typeArticleen_US

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