Clinical status and somatic development of patients with or without meconium ileus diagnosed through neonatal screening for cystic fibrosis.

UNLABELLED

The aim of the study was to compare the patients with abnormal result of newborn screening for cystic fibrosis (CF NBS), with or without meconium ileus (MI), in regard to their clinical status at the diagnosis and early childhood somatic development.

MATERIAL AND METHODS

The survey comprised patients with abnormal results of CF NBS which was carried out during years 2006-2011. Cohort of 92 children remaining under care of Institute of Mother and Child was followed in the period 09.2006-12.2011. In our study there were two groups compared: 19 children with MI and 73 children without MI. Clinical characteristics and genotype were evaluated and biochemical tests assessing pancreatic insufficiency and hepatic dysfunction were performed at the time of diagnosis, then annual weight and height Z-scores as well as clinical status based on ShwachmanKulczycki score were collected. Cox proportional hazards regression model was used to assess the effect of MI and genotype on development of pancreatic insufficiency.

RESULTS

MI was observed in 19 (20.6%) of 92 CF infants. MI and non-MI patients did not differ in respect of sex, gestational age and birth weight. The presence of severe genotype was more frequent in MI than non-MI group (94.7 and 64.4% respectively), whereas no significant difference was found in F508del mutation distribution. At the time of diagnosis inadequate weight gain and hepatic function disturbances prevailed more often in MI (68.4% and 31.6%) than non-MI group (39.7% and 9.6%). Pancreatic insufficiency was diagnosed in all children in MI group and in 76.1% of non-MI group and the risk of PI development was 2.3 (1.4-4.0) times higher in MI than in non-MI patients. MI children had smaller weight-for-age Z-score at the age of 12 months (-0.95) when compared to non-MI children (-0.13). Weight Z-scores compared at the age of 2 and 3 years as also height-for-age Z-scores did not differ significantly between groups. No statistically significant difference in clinical status according to Shwachman-Kulczycki score was found between MI and non-MI groups at the age of 12 months, 2 years and 3 years.

CONCLUSIONS

Our results suggest that the history of MI in children with CF may predispose them to more severe clinical course of disease in early childhood: insufficient weight gain and liver disturbances at the time of diagnosis, higher risk of developing pancreatic insufficiency and smaller weight at the age of 12 months, although clinical status according to Shwachman-Kulczycki score did not differ from non-MI group. Patients with MI, may require more intensive care and supervision in treatment. Further research is needed to asses MI impact on development of CF children in subsequent years. .