Treatment of bone metabolic disorders in patients with vitamin D-resistant rickets

S.M. Martsyniak, S.S. Strafun, T.A. Kincha-Polishchuk


Background. The purpose was to determine the effect of drug therapy upon genetically determined disorders of bone tissue metabolism in patients with vitamin D-resistant rickets. Materials and methods. In the consultative out-patient department of the Institute of Traumatology and Orthopedics of the NAMSU, 39 patients who had been diagnosed with vitamin D-resistant rickets, phosphate diabetes (VDRR), were examined and treated. Medical treatment of the patients was carried out in several stages. Stage 1 included a patient complete examination to determine the level of calcium and phosphorus in blood and urine, calcidiol and calcitriol in blood, parathyroid hormone and osteocalcin parameters as well as the marker of bone formation P1NP and that of osteoresorption B-CTx. At the first stage, children were obliged to undergo a genetic study. The aim of the study was to detect changes (polymorphism) in receptor alleles to vitamin D (VDR) and collagen type 1 (COL1). The examination at the next stages was conducted entirely, in addition to genetic studies. Results. Comprehensive study of vitamin D metabolism and biochemical parameters of bone function in patients with VDRR, including the formation of the organic basis of bone, allowed examine thoroughly some issues of pathogenesis and the essence of osteomalacia and later osteoporotic changes of different degrees. Depending on these changes, it was possible to develop different regimens of medical correction of bone metabolism disorders in phosphate-diabetes. Conclusions. The treatment of orthopedic VDRR should begin with 60 000 units of vitamin D, 12 μg of alpha-calcidol and 18 g of calcium glycerophosphate per month. In 3 months of treatment, a re-examination of bone metabolism should be performed, resulting in alterations of vitamin D or the hormonal form of vitamin D alpha-calcidol intake. The calcium-phosphorus mixture should be consumed by children at an average dose of 600–800 mg per day.


D-resistant rickets; phosphate diabetes; hereditary phosphatemia; rickets; vitamin D metabolism; calcidiol; calcitriol; deformations of lower extremities in children


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