Endocrine Abstracts

Introduction: Congenital dystrophic epidermolysis bullosa (CDEB) is a rare genetic multisystem disease. Life expectancy of the patients has increased and the prevention of the delayed complications including osteoporosis has become relevant.

Aim of the study: To study vitamin D status and phosphorus-calcium metabolism in the children with CDEB.

Methods and materials: The study included 32 patients with CDEB, aged from 7 months to 18 years (the average age - 6 y11 m). Vitamin D, parathyroid hormone, total calcium, phosphorus, alkaline phosphatase, magnesium and creatinine levels were determined.

Results: Considering increased energy needs of the children with CDEB, all the children received special therapeutic mixtures enriched with calcium and vitamin D. Vitamin D level in the examined children averaged 21.2 ng/ml (13.1; 37.8). Its insufficiency (20-30 ng/ml) was detected in 21.9%, deficiency (10-20 ng/ml) - in 40.6%, deep deficiency (<10 ng/ml) - in 6.25% of the children. The low level of calcium in the blood of the examined children - on average 2.24 mmol/l (2.15; 2.4) - was caused by hypocalcemia in 43.8% of the children. 15.6% of them had borderline values. One child was diagnosed with secondary hyperparathyroidism due to calcium and vitamin D insufficiency.

Conclusion: The study showed that phosphorus-calcium metabolism disorders in children with CDEB are due to a low level of vitamin D supply combined with hypocalcemia. Thus, supplementation of the CDEB children with vitamin D taken together with diet correction and special therapeutic mixtures intake is the necessary strategy to maintain adequate phosphorus-calcium metabolism.