|کد مقاله||کد نشریه||سال انتشار||مقاله انگلیسی||ترجمه فارسی||نسخه تمام متن|
|5719201||1411264||2017||10 صفحه PDF||سفارش دهید||دانلود کنید|
ObjectivesTo evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF).Study designA retrospective review of patients with LD-CF in New South Wales, Australia, from 1988 to 2010 was performed. LD-CF was defined as NBS-negative (negative immunoreactive trypsinogen or no F508del) or NBS-positive but discharged following sweat chloride < 60âmmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status.ResultsA total of 45 LD-CF cases were identified (39 NBS-negative and 6 NBS-positive) with 90 NBS-CF matched controls. Median age (IQR) of diagnosis for LD-CF and NBS-CF was 1.35 (0.4-2.8) and 0.12 (0.03-0.2) years, respectively (Pâ<.0001). Estimated incidence of LD-CF was 1 in 45â000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; Pâ<.0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; Pâ=â.0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; Pâ=â.007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; Pâ=â.01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z-score â0.65 vs â0.03; Pâ=â.02).ConclusionsLD-CF, despite NBS, seems to be associated with worse health before diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF.
Journal: The Journal of Pediatrics - Volume 181, February 2017, Pages 137-145.e1