H syndrome caused by a novel P324S mutation in SLC29A3 gene

Abstract

were born prematurely were more likely to have a lower weight than those that were full term. No significant difference was observed for the other factors, such as gender, age at treatment start, and the duration of propranolol treatment.Our study showed that oral propranolol at a dose of 2.0 mg/ kg/day affected weight development in pediatric patients with IHs during treatment; however, the influence disappeared by 2 years after the cessation of treatment. These results do not conflict with a previous study. 5 Weight development varied among the three measurement time points, and we hypothesize that this was, in large part, due to the occasional occurrence of slight propranolol-induced diarrhea, which may have resulted in poor nutritional status. However, the influence of propranolol was temporary. With its cessation, children's nutritional status likely returned to normal, and physical growth also returned to normal. Our data revealed that infants were more likely to be underweight at the end of treatment if they were born prematurely. We hypothesize that the reduced absorption of nutrients caused by propranolol treatment and their premature birth accounts for propranolol's negative influence on their physical development. Thus, parents should be instructed to ensure that their child is fed regularly, especially if premature, to prevent prolonged malnutrition during treatment.The results of this study are limited by its retrospective nature and the lack of a comparative control group. Additionally, this study had a small sample size and a high amount of patient variability. Larger and longer term prospective studies should be performed to fully determine the influence of propranolol on patients' physical development.