Mineral and bone metabolism in children with a dystrophic form of сongenital epidermolysis bullosa: the effect of Cholecalciferol therapy

Abstract

In the dystrophic form of CEB (DEB), malnutrition is more often observed with prominent deficiency of micro- and macroelements, especially calcium and vitamin D, that can lead to rickets and osteoporosis with fractures.Aim of the study. To study the features of mineral and bone metabolism in patients with DHE and evaluate the effectiveness of prescribing different doses of vitamin D.Methods and mаterials. The study group included 71 children with DEB (girls 55 %, boys 45 %), the median age was 8.5 years [3.67; 11.92] and 5.75 years [3.13; 10.46], respectively. All patients underwent a complex laboratory and instrumental examination before and after 6 months of Cholecalciferol therapy.Results. We found a high rate of vitamin D insufficiency (22.5 %) and deficiency (40 %), hypocalcemia of total calcium (40 %), a decrease in bone mineral density (BMD) down to osteopenia (33.8 %) and osteoporosis (19.7 %). Osteocalcin (OC) and C-terminal telopeptide of type I collagen (CTx-1) levels in the group of patients with hypocalcemia were significantly lower than in the subgroup with normal levels of calcium (p=0.001 for OC, p=0.015 for CTx-1). Wasting of higher degree was noted in the group with hypocalcemia (p=0.001). 53.6 % of patients took Cholecalciferol irregularly (IU 1100 IU [700; 1500]), 35.2 % of patients constantly took the medicine (IU 2000 IU [1000; 3000]) (p = 0.021). After 6 months, normal levels of 25(OH)D were noted in 62 % of children; the levels of P1NP (p<0.001), phosphorus (p=0.012) decreased, and BMD improved (p=0.024). According to the plan developed in our study, with level of 25(OH)D ≤ 30 ng/ml, children aged 1–7 years old should be given at least 1500 IU; at 7–12 years – 2500 IU; at 12–18 years – 3000 IU.Conclusion. To achieve optimal levels of vitamin D, calcium, and bone turnover markers in children with DEB, it is necessary to use a personalized approach for colecalciferol prescription.