S140 16. Epidemiology/Registry Posters 355 The importance of the M470V polymorphism T. Celik 1 , R. Gunesacar 1 , A. Balci 1 , S. Unal 1 , G. Aldic 1 , H. Eskici 1 , N. Atilgan 1 , S. Elmaci 1 , M. Tutanc 1 , D. Can 1 . 1 Mustafa Kemal University, Department of Pediatrics, Antakya, Turkey Objective: Several hundreds of CFTR variants have been reported, it is not known whether they are causing CF or not. M470 and the combined V frequency is seen the sub-Saharian Africa. In this study, we aimed to investigate the clinical importance of M470V mutation in Antiochia region (ancient commercial center and capital of Syria; an early center of Christianity) which is in the vicinity of Africa and a region with frequent consanguineous marriages due to ethnical reasons. Method: The study was designed as a case control study. The study group consisted of 79 children with mutations out of 145 children who were undergoing CF gene study because of recurrent respiratory tract infections, growth failure, chronic diarrhea and constipation. These 79 patients’ clinical and labarotory features were investigated. Results: In 63 of 145 patients (43.4%), heterozygous mutation, in 16 (11%) homozygous mutation was detected. Mean age of those patients was 41.21±39.8 (min: 6 max: 192) months and 30 (38%) were girls and 49 (62%) were boys. All of them had M470V mutation. Of the patients with mutation 17 (32.7%) had a familial history of cystic fibrosis, 2 had sibling death history. In mutation group, only annual number of infections, skin dryness, loss of weight, level of IgG and IgM were significantly higher (p < 0.05). Conclusion: It was concluded that in M470V positive cases, the disease may cause clinical symptoms without affecting sweat test results, with less gastrointestinal but more respiratory symptoms, causing a more prominent loss of weight, and causing higher levels of immunoglobulin due to more frequent infections. 356 Phenotype characteristics of homozygous F508del mutation in Northern Portugal: Experience of two pediatric centers T.F. Barbosa 1 , I. Ferreira 1 , S. Corujeira 2 , C. Ferraz 2 , L.G. Vaz 2 , V. Senra 1 , H. Rocha 1 . 1 Centro Hospitalar do Porto, Pediatrics, Oporto, Portugal; 2 Hospital S. Jo˜ ao, Pediatrics, Oporto, Portugal Objectives: Cystic fibrosis (CF) homozygous F508del mutation is classically char- acterized by earlier clinical presentation, more severe disease and more rapid clinical decline. The aim of this study was to determine the prevalence of that genotype in northern Portugal and compare their clinical features with other mutations. Methods: Retrospective cohort analysis based on data collected from the two reference centers treating pediatric patients in that region. Multiple variables were analyzed as age, sex, CFTR genotype, age and body mass index (BMI) at the time of the CF diagnosis, BMI at the time of data collection, pancreatic insufficiency, percent predicted FEV1 (FEV1%) and microbiologic agents. The population obtained was then separated in two groups based in genotype mutation, group 1, F508del homozygous and group 2, with other mutations. Results: 71 patients were obtained, with a median age of 10.5 years [0.72; 23.2], 37 (52%) included in group 1 (19 males) and 34 (48%) in group 2 (14 males). The age of CF diagnosis and the BMI at the time of data collection were significant lower in the first group (p = 0.025 and p = 0.015, respectively). Pancreatic insufficiency was more frequent in group 1 (p = 0.013). Pseudomonas aeruginosa was also found more frequently in the homozygous F508del patients (p = 0.013). There was no significant difference between the two groups when analyzed de BMI at the time of the CF diagnosis and the FEV1%. Conclusion: CF diagnosis was earlier, the BMI at the time of data collection was lower, pancreatic insufficiency was more frequent and the Pseudomonas aeruginosa was isolated more often in the population with homozygous F508del mutation. 357 Is being Albanian a risk factor for cystic fibrosis? T. Repetto 1 , V. Galici 2 , G. Mergni 1 , L. Zavataro 1 , F. Festini 3 , G. Taccetti 1 . 1 CF Centre Florence, Florence, Italy; 2 Departments of Pediatrics, Florence, Italy; 3 University of Florence, Florence, Italy Objectives: To collect further data to confirm the high Cystic Fibrosis (CF) prevalence in the Albanian population in Tuscany (Italy). CF is common in Albania but there are no data about its incidence in this country. In 1992 there was a great immigration of Albanians to Tuscany. In our previous study we analyzed the number of Albanians born in Tuscany over a 10-yr period (1991–2001) who were screened for CF. In that period there were 1803 Albanian newborns and 4 CF cases were diagnosed by newborn screening (NBS) with incidence 1:450. These data suggested that the incidence of CF in the Albanian population is high, but they were not enough to be conclusive. Materials: The Regional CF Center for Tuscany has been screening newborns of the Region since 1992. We compared the prevalence of Albanian patients affected by CF to the total Albanian population living in Tuscany and to the prevalence of CF patients of Italian origin living in this area. Tuscany is a region of 3,749,813 of inhabitants; the immigrant population has increased from 2% in 2002 to 10% in 2011; 17% of immigrants are of Albanian nationality, numbering 68,333. The overall CF incidence is about 1:3800, basically stable for the last 20 ys. The Regional CF Center follows 283 patients, 15 are Albanian: 8 diagnosed by NBS screening, 3 by meconium ileus and 4 by symptoms because they arrived in our region after birth. The prevalence of Albanian patients affected by CF among Albanians living in Tuscany is 2.1/1000; the prevalence of CF patients among the Italian population living in Tuscany (3,385,661) is 0.08/1000. Conclusion: These data confirm previous reports: high prevalence of CF among Albanians. 358 CF registry mortality analysis to understand the effects of widespread genetic testing on the trend of median age at death: Is the increased life-expectancy related to increased prevalence of mild phenotypes? Z.H. Hoo 1,2 , M. Wildman 1,2 , M.D. Teare 2 . 1 Adult Cystic Fibrosis Unit, Northern General Hospital, Sheffield, United Kingdom; 2 School of Health and Related Research (ScHARR), University of Sheffield, Sheffield, United Kingdom Objectives: The life expectancy of CF patients continues to improve over the last decade. According to the CF Trust 2010 Annual Report, the median age at death in years was 24 in 2007 and 29 in 2010. However, the impact of widespread genetic testing in identifying older patients with ‘mild phenotypes’ on this trend is unknown. Methods: Data of all patients within the UK CF registry born before 2011 who are alive at some point between 2007 and 2010 were obtained. Patients were divided into two categories of ‘mild phenotypes’ (diagnosed when older than 18 years, i.e. ‘late’ diagnosis, pancreatic sufficient) and ‘typical CF’ (‘early’ diagnosis, pancreatic insufficient). Kruskal-Wallis test was used to compare the overall, ‘mild phenotype’ and ‘typical CF’ median age at death from 2007 to 2010. Results: See the table. Table: Median age at death of CF patients, from 2007 to 2010 Category Median age at death, years (inter-quartile range) 2007 2008 2009 2010 Kruskal–Wallis test p-value Overall 25.0 (10) 26.5 (14) 27.0 (15) 29.0 (16) 0.084 ‘Early diagnosis’ 25.0 (10) 26.0 (12) 27.0 (14) 28.5 (15) 0.062 Pancreatic insufficient 25.0 (10) 26.0 (13) 27.0 (14) 30.0 (15) 0.038 Pancreatic sufficient 27.5 (range = 7) 43.0 (35) 48.5 (31) 25.0 (18) 0.338 Conclusion: The improvement in the median age at death for ‘typical CF’ patients who were diagnosed ‘early’ or pancreatic insufficient mirrored the overall improvement. The overall survival improvement persisted when the analysis excluded ‘mild phenotype’ (pancreatic sufficient or ‘late’ diagnosis) patients. It is therefore unlikely for the overall improvement in median age at death to be driven by increased case finding of mild phenotypes. Further analyses are being undertaken to understand the temporal incidence and prevalence trend among ‘mild phenotypes’ CF patients. We thank the UK CF Registry for supplying the data for this analysis. brought to you by CORE View metadata, citation and similar papers at core.ac.uk provided by Elsevier - Publisher Connector