375 Expression of cystic fibrosis (CF) at diagnosis in a reference center in Rio de Janeiro

Abstract

Objectives: The incidence of cystic fibrosis (CF) in Estonia is 1 in 7700 live births. The aim of this study was to analyze the demographic and clinical data of CF patients in Estonia on the census date (01/12/2010) and compare them to earlier data of 1993 and 2003. Methods: There are 45 (26 males and 19 females) alive CF patients in Estonia. Clinical data of 39 patients, who have been in regular follow up in 2009/2010 at Children’s Clinic of TUH (21), Tallinn Children’s Hospital (17) and North Estonia Medical Centre (1), were reviewed. Results: The mean age of our CF patients has increased from 8 y 2mo (1993) to 15 y 5mo (2010). In 1993 there was no patient >18years old vs. 29% (9/31) in 2003 and 38% (17/45) in 2010. The median age at diagnosis of CF in Estonian patients (1 year 6 months) is still higher than in the EU countries. The chronic P. aeruginosa colonisation was found in 18/39 and S. aureus in 14/39 patients. Majority of patients (84%) had good lung function according to FEV1 predicted >70%. The mean value for FEV1 was 91.1 % (95%CI 75.6–106.5) and for FVC 89.4 % (95%CI 60.5– 118.5). Chronic liver disease was detected in 12/39 and diabetes only in 2 patients. One 12 old year girl with liver cirrhosis had liver transplantation. Comparing mortality rates throughout the following periods, a significant decline has been detected: from 12.2% (1983–1987) to 0.66% (2003–2010). Conclusions: In Estonia slight but steady improvement in the survival of patients and their quality of life has been observed due to consistent changes in their follow up, centralized healthcare system and treatment options.