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

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dc.contributor.authorRamasli Gursoy T.
dc.contributor.authorAslan A.T.
dc.contributor.authorAsfuroglu P.
dc.contributor.authorSismanlar Eyuboglu T.
dc.contributor.authorCakir E.
dc.contributor.authorCobanoglu N.
dc.contributor.authorPekcan S.
dc.contributor.authorCinel G.
dc.contributor.authorDogru D.
dc.contributor.authorOzcelik U.
dc.contributor.authorYalcin E.
dc.contributor.authorSen V.
dc.contributor.authorErcan O.
dc.contributor.authorKilinc A.A.
dc.contributor.authorYazan H.
dc.contributor.authorAltintas D.U.
dc.contributor.authorKartal Ozturk G.
dc.contributor.authorBingol A.
dc.contributor.authorSapan N.
dc.contributor.authorCelebioglu E.
dc.contributor.authorTugcu G.D.
dc.contributor.authorOzdemir A.
dc.contributor.authorHarmanci K.
dc.contributor.authorKose M.
dc.contributor.authorEmiralioglu N.
dc.contributor.authorTamay Z.
dc.contributor.authorYuksel H.
dc.contributor.authorOzcan G.
dc.contributor.authorTopal E.
dc.contributor.authorCan D.
dc.contributor.authorKorkmaz Ekren P.
dc.contributor.authorCaltepe G.
dc.contributor.authorKilic M.
dc.contributor.authorOzdogan S.
dc.date.accessioned2024-07-22T08:05:14Z
dc.date.available2024-07-22T08:05:14Z
dc.date.issued2022
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. © 2021 Japan Pediatric Society.
dc.identifier.DOI-ID10.1111/ped.14888
dc.identifier.issn13288067
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13061
dc.language.isoEnglish
dc.publisherJohn Wiley and Sons Inc
dc.subjectCystic Fibrosis
dc.subjectCystic Fibrosis Transmembrane Conductance Regulator
dc.subjectHumans
dc.subjectInfant, Newborn
dc.subjectNeonatal Screening
dc.subjectStaphylococcus aureus
dc.subjectTrypsinogen
dc.subjectImmunoreactive trypsinogen
dc.subjectproton pump inhibitor
dc.subjecttrypsinogen
dc.subjectunclassified drug
dc.subjectcystic fibrosis transmembrane conductance regulator
dc.subjecttrypsinogen
dc.subjectAchromobacter
dc.subjectallergic bronchopulmonary aspergillosis
dc.subjectArticle
dc.subjectaspergillosis
dc.subjectBartter syndrome
dc.subjectBurkholderia cepacia complex
dc.subjectchild
dc.subjectcystic fibrosis
dc.subjectenzyme immunoassay
dc.subjectenzyme replacement
dc.subjectfemale
dc.subjecthemoptysis
dc.subjecthuman
dc.subjectinfant
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectnewborn
dc.subjectnewborn screening
dc.subjectosteoporosis
dc.subjectpneumothorax
dc.subjectpreschool child
dc.subjectPseudomonas aeruginosa
dc.subjectStaphylococcus aureus
dc.subjectStaphylococcus aureus infection
dc.subjectsweat
dc.subjectsweat chloride test
dc.subjectcystic fibrosis
dc.subjectgenetics
dc.subjectnewborn screening
dc.subjectprocedures
dc.titleClinical findings of patients with cystic fibrosis according to newborn screening results
dc.typeArticle

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