20 Cystic fibrosis newborn screening in Italy: survey for assessment of technical-scientific and organizational issues

Abstract

Aim: Evaluation of patients with pancreatic sufficiency (PS) and insufficiency (PI) diagnosed in CF NBS. Methods: Groups of 17 PS and PI patients diagnosed in CF NBS with the similar CFTR mutations and confirmed elastaze-1 status were analyzed. Patients with Meconium ileus were excluded. Birth weight and length, age at diagnosis, IRT, sweat test values, evaluation of SD body weight and height at the end of the 1st year of life as well as Pseudomonas aeruginosa (PA) infection were collected. Results: From Sept. 2006 to the end of Dec. 2010 CF was confirmed in 84 newborns screened. In PS group were 41% females and 53% respectively. Both groups consisted of 10 F508del heterozygotes and 7 non-F508del heterozygotes. Average age of diagnosis in PS group was similar to PI patients (55 v 45 days). The mean birth weight (3697.35±472.45 v 3122.12±368.52; p< 0.001) and length (55.82±2.83 v 53.76±2.49; p = 0.031) were significantly higher in PS patients. The mean IRT for the group PS was significantly lower (455.07±342.88 v 676.72±353.22; p = 0.036). At the end of 1st year of life, mean SD body weight and IWH% was in the normal range without differences between group. However, SD height (0.36±0.81 v −0.26±0.89; p = 0.033 were significantly reduced in PI patients. Iontophoresis sweat test was significantly lower in PS group (54.48±20.55 v 81.31±22.77; p = 0.001). 3 patients in both groups had infection with PA in assessed period. Conclusion: CF newborns with PS were characterized by lower sweat test and IRT results but higher birth weight and length than PI children. Although there were no differences in weight at the end of 1st year of life between the groups, children with PI were taller.