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• W4379981228 abstract "Follow-up of children with cystic fibrosis screen positive inconclusive diagnosis (CFSPID) is important for the development of cystic fibrosis (CF). We aimed to evaluate the clinical features of children with CFSPID and CF presenting with newborn screening (NBS) positivity with IRT/IRT protocol and children who subsequently developed CF. Between 2015–2022, all children with NBS positivity who applied to three pediatric pulmonology centers diagnosed as CFSPID and CF were evaluated retrospectively. Clinical, laboratory, radiological and genetic features of all children were noted. Of the 3372 children with positive NBS, 176 (5.2%) of them were evaluated, of which 98 (55.7%) were female. There were 94 (53.4%) children with CFSPID and 82 (46.6%) children with CF at first admission. Thirteen (7.3%) children with CFSPID developed CF after a median follow-up of 118days. Twelve (92.3%) of them were diagnosed as CF by genetic result and one (7.7%) by sweat chloride test performed during follow-up. Finally, 95 (54.0%) were diagnosed as CF, 72 (40.9%) as CFSPID. The clinical features of children with finally diagnosed with CF and CFSPID were shown in Table 1. The clinical features of children initially diagnosed as CFSPID and developed CF during follow-up were shown in Table 2. Table 1The clinical features of children with finally diagnosed CF and CFSPIDCF (n = 95)CFSPID (n = 72)pFirst IRT values (μg/L) [median (min–max)]207.1 (90–508)104.6 (90–195)0.001Second IRT values (μg/L) [median (min–max)]163 (71–479)81.3 (70–162.4)0.001First sweat chloride test result (mmol/L) [median (min-max)]79 (30–127)35 (30–58)0.001Second sweat chloride test result (mmol/L) [median (min–max)]72.3 (20–103.6)30 (5.4–50.4)0.001Weight z-score [median (min–max)]−0.93 (−3.6–1.8)−0.10 (−3.4–1.9)0.006Height z-score [median (min–max)]−0.49 (−3.3–1.9)0.19 (−3.4–2.1)0.009Daily weight gain (gr/day) [median (min–max)]18 (0–49)25 (0–90)0.001Doll-like face appearance [n (%)]7 (7.4)2 (2.8)0.004Number of hospitalization [median (min-max)]2 (0–20)0 (0–3)0.001 Open table in a new tab Table 2The clinical features of children with initially evaluated as CFSPIDFinal diagnosis of children with initial diagnosis of CFSPIDpCF (n = 13)CFSPID (n = 72)First IRT values (μg/L) [median (min–max)]123 (90–231)104.5 (90–195)0.038Second IRT values (μg/L) [median (min–max)]90 (71–266)81.3 (70–162.4)0.089First sweat chloride test result (mmol/L) [median (min–max)]43 (30–59.8)35 (30–58)0.031Second sweat chloride test result (mmol/L) [median (min–max)]36.8 (20–59.4)30 (5.4–50.4)0.083Doll-like face appearance [n (%)]1 (8.3)00.015History of pseudo-Bartter syndrome [n (%)]8 (61.5)4 (5.6)0.001History of recurrent lower respiratory infection [n (%)]4 (30.8)3 (4.5)0.002Number of hospitalization [median (min–max)]1 (0–8)0 (0–3)0.001 Open table in a new tab Children with initially diagnosed with CFSPID who developed CF in follow-up had higher IRT values, recurrent lower respiratory infections, history of pseudo-Bartter syndrome and more hospitalizations than children with a final diagnosis of CFSPID. Although clinical and laboratory findings are milder, children with CFSPID should be followed closely in terms of CF development, and genetic tests, which take a long time to result in follow-up, should be evaluated." @default.
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• W4379981228 date "2023-06-01" @default.
• W4379981228 modified "2023-10-15" @default.
• W4379981228 title "P180 Evaluation of clinical features of children with cystic fibrosis and CFSPID in newborn screening programme with IRT/IRT protocol" @default.
• W4379981228 doi "https://doi.org/10.1016/s1569-1993(23)00555-6" @default.
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