214 Cystic fibrosis and cirrhosis in Russia

Abstract

Relevance Frequency of liver disease in cystic fibrosis varies from 3% to 48%, with cirrhosis observed from 2.9% to 10.8% of patients (European Cystic Fibrosis Society Patient Registry, 2011). Objective To study the prevalence and characteristics of liver cirrhosis associated with cystic fibrosis among children and teenagers from the Moscow region. Patients and Methods 303 children and teenagers (146 boys and 157 girls) were included into the register of patients with cystic fibrosis in the Moscow region in 2011. The register was filled in in accordance with requirements of European Cystic Fibrosis Society (ECFS). Results Analysis has shown that liver disease is reported in 30 cases (11%) out of 303 patients with cystic fibrosis, who live in Moscow region. Cirrhosis was registered among 24 children and teenagers (7.9%), on the country's register this level is around 8.8% out of all patients and 7.2% among children. Liver transplantation was performed only in one case (0.3%). Cirrhosis was frequently found in the group of children above 7 years of age, which consisted of 23 patients (96%), with 1.6 times more frequency among boys. Body mass index (BMI) corresponded with normal range in 60%; reduced BMI was reported in 37% and increase in BMI was recorded only in 3% of cases. Allelic frequency of F508del mutation was noted with the same frequency as in the population – 52.3%. Allelic frequency of the mutation CFTR dele 2,3 was 6.8%, W1282X 4.5%, 2790–2A>G 2.3%, 3849+10kbC>T 2.3%, S1196X 2.3%, G542X 2.3%. The mutation 2790–2A>G was recorded only in one patient with cirrhosis. Diabetes was commonly diagnosed among children with cirrhosis. Conclusion The frequency of cirrhosis among children's population of patients with cystic fibrosis was determined for the Moscow region with the specific focus on age, gender and genetic features.