WS11.2.1 Review of cystic fibrosis infants referred with 2 raised immunoreactive trypsinogen (IRT) and no common mutations

Abstract

0.45). However, since 2007, 72% of these patients were missed on NBS, despite 12.5% having a known positive family history. Colonisation with emerging pathogens is evident in this group: Aspergillus 21%, Mycobacterium abscessus 9%, Exophiala dermatitidis 6%, Stenotrophomonas maltophilia 9%, Rhodotorula 6% and Pandorea 6%. There is no correlation between age at diagnosis and BMI, lung function or frequency of acute admissions. Conclusion: The improved identification of this population since 2007, is largely due to clinical management not NBS. Local ethnic diversity may inadvertently result in geographical disparity of NBS.