Study design (if review, criteria of inclusion for studies)
Retrospective study
Participants
49 prepubertal patients (24 males and 25 females) affected by CF in a stable clinical condition. Patients had no significant comorbidity affecting growth or cystic fibrosis transmembrane conductance regulator (CFTR)-related diabetes requiring insulin therapy. Recruited as a control group were 52 healthy children, sex- and age-matched, were recruited as a control group.
Interventions
Newborn screening. 19 patients had been diagnosed through newborn screening and 30 following presentation of symptoms.
Outcome measures
Body mass index (BMI), height, weight, IGF-I, GHBP, and GHR gene expression values. Blood was collected during two follow-up visits to measure insulin-like growth factor (IGF-I), growth hormone-binding protein (GHBP), and GHR gene expression.
Main results
BMI increased significantly in patients between the time of diagnosis and check-up (P<0.001), particularly in the LD group; median value was lower at diagnosis and significantly higher (P<0.001) at follow-up visits compared to controls. At initial evaluation, higher levels of IGF-I (not statistically significant) were found in both the NBS group and the LD group compared to the control group. At the second evaluation, significantly higher levels of IGF-I (P=0.003) were found in both the NBS and LD groups compared to controls; GHR mRNA expression had significantly increased (P=0.013) in LD patients compared with the first evaluation and was significantly higher in the NBS and LD groups than in controls. GHBP values had significantly increased (P=0.047) in the NBS group after one year of therapy compared to first visit levels and were significantly higher (P<0,0001) in the NBS and LD groups compared to controls.
Authors' conclusions
In our LD patients during childhood, we observed good auxological values and a GH/IGF-I axis function within normal range for the factor evaluated. However, earlier diagnosis through NBS might further minimize and prevent growth retardation, by reducing the duration of symptoms before treatment.