Identification of Patients Diagnosed with Cystic Fibrosis Newborn Screening: Four Year Experience of A Single-Center

Objectives: Cystic fibrosis (CF) is an autosomal recessive multisystem disorder which has negative impact on life span and quality. Newborn screening intends to diagnose infants in the first few weeks of life before the appearance of clinical signs. This study aimed to call attention to CF, a diseas...

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Bibliographic Details
Published in:Turkish Thoracic Journal 2019-09, Vol.20 (1), p.197-197
Main Authors: Cullas Ilarslan, Nisa Eda, Ozcan, Gizem, Gunay, Fatih, Yildirim, Dondu Nilay, Cobanoglu, Nazan
Format: Article
Language:eng ; tur
Subjects:
Chloride
Cystic fibrosis
Medical screening
Mutation
Newborn babies
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Summary:Objectives: Cystic fibrosis (CF) is an autosomal recessive multisystem disorder which has negative impact on life span and quality. Newborn screening intends to diagnose infants in the first few weeks of life before the appearance of clinical signs. This study aimed to call attention to CF, a disease which can be detected with newborn screening before irreversible nutritional and respiratory system manifestations occur. Methods: This retrospective study evaluated records of infants referred to our center due to positive CF newborn screening [immune reactive trypsinogen (IRT)] between January 2015–January 2019. Patients missing an indicated second sweat chloride test were not included. Clinical data, sweat chloride test and cystic fibrosis transmembrane regulator (CTFR) gene mutation analysis results were searched. Results: A total of 229 infants were referred during the study period. Infants with an initial sweat chloride test reflecting
ISSN:2149-2530
2149-2530
2979-9139
DOI:10.5152/TurkThoracJ.2019.197