[Early enzyme replacement therapy - hope for patients with mucopolysaccharidosis Type II]. / Wczesna enzymatyczna terapia substytucyjna ­ nadzieja dla chorych na mukopolisacharydoze typu II.

We present an unexpected outcome of 10 years of enzyme replacement therapy of a boy with mucopolysaccharidosis type II. Due to a positive familiar history (severe disease course in a sibling) the diagnosis was established in the first month of life. Treatment with Elaprase was introduced two months later. Since then normal physical and mental development is observed. The patient presents only relatively large head circumference (+2.1 SD) and slight decrease of joints mobility. In our opinion, early introduction of enzyme replecement therapy could attenuate the disease course.

THE INCIDENCE OF HYPERGLYCAEMIA IN VERY LOW BIRTH WEIGHT PRETERM NEWBORNS. RESULTS OF A CONTINUOUS GLUCOSE MONITORING STUDY--PRELIMINARY REPORT.

AIM: To determine the incidence of hyperglycaemia in very low birth weight preterm newborns. To assess risk factors in hyperglycemia and outcome in groups of children with and without clinically significant hyperglycaemia. MATERIAL AND METHODS: The prospective study included newborns with very low birth weight in whom the continuous glucose monitoring system was used for glucose measurements. A standardized hyperglycaemia treatment schedule was implemented and a uniform nutrition strategy introduced. The patients were divided into groups: group A--patients with under 5% of the readings over 150 mg/dL of glucose (control group), group B--patients with more than 5% of the readings over 150 mg/dL of glucose and under 5% of the readings over 180 mg/dL of glucose (mild hyperglycaemia), and group C--patients with over 5% of the readings > 180 mg/dL or on insulin treatment (moderate or severe hyperglycaemia). RESULTS: 63 patients were included in the study. Their mean gestational age was 27.7 weeks (SD:2.4), the mean birth weight was 1059g (SD: 262 g). Hyperglycaemia was detected in 27 (42.9%), including mild hyperglycaemia in 19 (30.2%), and moderate or severe hyperglycaemia in 8 (12.7%) neonates. Lower gestational age (p = 0.02) and higher CRIB IIscore (p < 0.01) were positively associated with hyperglycaemia. Early-onset sepsis (p < 0.01) was associated with higher glucose levels as well. A significantly higher mortality rate on the 28th day of life (p = 0.02), depending on the severity of hyperglycemia, was noted. No adverse effects related to the continuous glucose monitoring system were observed. CONCLUSIONS: The study confirmed the usefulness and safety of the continuous glucose monitoring system in VLBW neonates. A continuous glucose monitoring system should be used in neonatal intensive care units as a standard method.