THE CLINICAL AND GENETIC CHARACTERISTICS AND OUTCOMES OF MECONIUM ILEUS IN CYSTIC FIBROSIS

Abstract

The aim of this study was to investigate the prevalence of meconium ileus in a Russian population of patients with cystic fibrosis, its clinical and genetic characteristics and outcomes, by analyzing the data available in the 2014 registry of the Russian Federation. The investigators studied the characteristics of 142 cystic fibrosis patients who had experienced meconium ileus at birth from the 2014 registry of the Russian Federation that included data on 2131 patients; thus, the cystic fibrosis patients who had meconium ileus at birth was 6.6%. In the group of babies in first year of life, meconium ileus was diagnosed in 22.1% of the patients, which reflects its real prevalence. There was evidence of ileus in the history in 10.7% of the patients aged 1 year to 7 years, in 5.6% in those aged 7 to 18 years, and in 1.5% in those older than 18 years of age. The age at the diagnosis of cystic fibrosis in patients with ileus was 5 times less than in those without ileus: 0.76±2.01 versus 3.72±6.16 years; p<0.0001. In the meconium ileus group, sweat chloride levels were significantly higher and body mass index values were lower than in the non-ileus group. Electrolyte disorders, aspergillosis, and liver cirrhosis were more common in the patients who had experienced meconium ileus. The homozygous condition for the F508del mutation (Class II) and severe CFTRdele2 mutation (Class I) were more frequently recorded in the meconium ileus group. Mild mutations were more frequently found in the non-meconium ileus group. Survival and age at death were lower in patients with a history of meconium ileus. All newborns with meconium ileus should be examined for cystic fibrosis.