Michael J Coffey1, Viola Whitaker1, Natalie Gentin2, Rosie Junek3, Carolyn Shalhoub4, Scott Nightingale5, Jodi Hilton6, Veronica Wiley7, Bridget Wilcken7, Kevin J Gaskin7, Chee Y Ooi8. 1. School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, Australia. 2. School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, Australia; Department of General Pediatrics, Sydney Children's Hospital Randwick, Sydney, Australia. 3. The Children's Hospital at Westmead, Sydney, Australia. 4. Department of Medical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia. 5. GrowUpWell Priority Research Centre, University of Newcastle, Newcastle, Australia; Department of Gastroenterology, John Hunter Children's Hospital, Newcastle, Australia. 6. University of Newcastle, Newcastle, Australia; Department of Respiratory Medicine, John Hunter Children's Hospital, Newcastle, Australia. 7. The Children's Hospital at Westmead, Sydney, Australia; The University of Sydney, Sydney, Australia. 8. School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, Australia; Department of Gastroenterology, Sydney Children's Hospital Randwick, Sydney, Australia. Electronic address: keith.ooi@unsw.edu.au.
Abstract
OBJECTIVES: To 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 DESIGN: A 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 < 60 mmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status. RESULTS: A 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 (P <.0001). Estimated incidence of LD-CF was 1 in 45 000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; P <.0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; P = .0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; P = .007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; P = .01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z-score -0.65 vs -0.03; P = .02). CONCLUSIONS: LD-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.
OBJECTIVES: To 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 DESIGN: A 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 < 60 mmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status. RESULTS: A 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 (P <.0001). Estimated incidence of LD-CF was 1 in 45 000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; P <.0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; P = .0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; P = .007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; P = .01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z-score -0.65 vs -0.03; P = .02). CONCLUSIONS:LD-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.
Authors: Camilla Margaroli; Luke W Garratt; Hamed Horati; A Susanne Dittrich; Timothy Rosenow; Samuel T Montgomery; Dario L Frey; Milton R Brown; Carsten Schultz; Lokesh Guglani; Anthony Kicic; Limin Peng; Bob J Scholte; Marcus A Mall; Hettie M Janssens; Stephen M Stick; Rabindra Tirouvanziam Journal: Am J Respir Crit Care Med Date: 2019-04-01 Impact factor: 21.405
Authors: Scott C Bell; Marcus A Mall; Hector Gutierrez; Milan Macek; Susan Madge; Jane C Davies; Pierre-Régis Burgel; Elizabeth Tullis; Claudio Castaños; Carlo Castellani; Catherine A Byrnes; Fiona Cathcart; Sanjay H Chotirmall; Rebecca Cosgriff; Irmgard Eichler; Isabelle Fajac; Christopher H Goss; Pavel Drevinek; Philip M Farrell; Anna M Gravelle; Trudy Havermans; Nicole Mayer-Hamblett; Nataliya Kashirskaya; Eitan Kerem; Joseph L Mathew; Edward F McKone; Lutz Naehrlich; Samya Z Nasr; Gabriela R Oates; Ciaran O'Neill; Ulrike Pypops; Karen S Raraigh; Steven M Rowe; Kevin W Southern; Sheila Sivam; Anne L Stephenson; Marco Zampoli; Felix Ratjen Journal: Lancet Respir Med Date: 2019-09-27 Impact factor: 30.700
Authors: Anna Zolin; Anna Bossi; Natalia Cirilli; Nataliya Kashirskaya; Rita Padoan Journal: Int J Environ Res Public Health Date: 2018-09-15 Impact factor: 3.390
Authors: Christina B Barreda; Philip M Farrell; Anita Laxova; Jens C Eickhoff; Andrew T Braun; Ryan J Coller; Michael J Rock Journal: J Cyst Fibros Date: 2020-06-13 Impact factor: 5.482