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- W965118510 abstract "Objectives Denmark has a highly developed fully government funded health system and centralised high standard CF care. However, newborn screening (NBS) for CF is not implemented. We describe the results of this lack of early diagnosis. Methods Patients diagnosed with CF in 2010–2014 were reviewed using the Danish CF Registry as well as patient files before and after diagnosis. Parameters collected were age at diagnosis, weight, height, FEV-1 (if ≥6 yrs), genotype, f-elastase, bacteriology at diagnosis and previous diagnoses. Results 63 patients were diagnosed in the period. 8 cases of meconium ileus (MI) and 3 cases tested at birth (known CF in the family or prenatal symptoms) are omitted from further analyses, since they would have been diagnosed independent of NBS. 4 children and 5 adults were pancreatic sufficient. Pancreatic insufficient patients (n = 43) Pancreatic sufficient patients (n = 9) Age at diagnosis (mo), median (range); mean 15.7 (1.3–306); 38.5 327 (23–471) /217 z-score weight, mean (SD) −1.67 (1.25) −0.05 (0.41) z-score height, mean (SD) −1.67 (1.45) −0.54 (2.01) FEV-1%, mean (SD) 80.3 (19.5) a 103.7 (12.6) b Genotype dF508/dF508, n (%) 32 (75%) 0 (0%) Genotype R117H/other, n (%) 0 (0%) 6 (67%) a 8 patients, mean age 12.9 y. b 5 patients, mean age 29 y. 37% PI patients had z-score below −2 for weight and 39% for height. 37% were colonised with Staphylococcus aureus, 13% with Pseudomonas aeruginosa at diagnosis. Typical pre-CF diagnoses were asthma and pneumonia. One MI patient was diagnosed as atresia with short bowel syndrome until age 2 years. Conclusion Even in a well-developed health system the CF diagnosis is delayed with severe consequences. Most patients were moderately to severely underweight. Several had possibly preventable lung disease in the form of bronchiectasis and infection. NBS would prevent malnutrition in the majority of cases and would allow treatment to prevent chronic lung damage." @default.
- W965118510 created "2016-06-24" @default.
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- W965118510 date "2015-06-01" @default.
- W965118510 modified "2023-09-27" @default.
- W965118510 title "WS11.5 The consequences of no newborn cystic fibrosis screening in a well-developed country" @default.
- W965118510 doi "https://doi.org/10.1016/s1569-1993(15)30073-4" @default.
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