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- W2990966730 abstract "Introduction and Aim: Since January 1, 2015, newborn screening program has been implemented in our country. The aim of this study is to report the clinical and genotype characteristics of patients who were diagnosed as CF after false negative CFNBS results since January 2015. Material and Methods: 1. The IRT value is greater than 90 ng/ml and 2. IRT value greater than 70 were considered suspicious and referred to a sweat test. The sweat test value above 60 mmol/L was considered positive. Results: 63 patients were diagnosed as CF in our clinic between 2015-2018. While 84.2% (n = 53) of the patients were diagnosed by positive CFNBS result, 15.8% of the patients (n = 10) had false negative results of IRT values. Of the 10 patients included in the study, 50% were girls, with a mean age of 30.7 ± 8.8 months (12-39 months); The mean age of diagnosis was 152 ± 147 days (28-480 days). Genetic mutation was detected in all patients. The first IRT level was above 90 µg/l in 40% (n = 4) of the patients. 40% of the patients had pancreatic insufficiency and Pseudobartter was detected in 70% of patients. Pseudomonas aeroginosa growth in sputum culture was detected in 60% of patients whereas MRSA growth was 10%. 30% of the patients had anemia. Conclusion: Regardless of the results of the newborn screening tests, patients with symptoms supporting CF should be further evaluated. For the patients with intermediate sweat test results, genetic analysis should be performed for CF. As seen in our study, it should be kept in mind that IRT negativity may also occur in mutations that cause severe CF." @default.
- W2990966730 created "2019-12-05" @default.
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- W2990966730 date "2019-09-28" @default.
- W2990966730 modified "2023-09-28" @default.
- W2990966730 title "Characteristics of cystic fibrosis patients diagnosed after false negative cystic fibrosis newborn screening results" @default.
- W2990966730 doi "https://doi.org/10.1183/13993003.congress-2019.pa4523" @default.
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