Medical Treatment of Disorders of Bone Metabolism in Patients with Vitamin-D-Dependent Rickets Type I

S.M. Martsyniak


Objective is to determine the effects of medical therapy of genetically caused disorders of bone metabolism in patients with vitamin-D-dependent rickets (VDDR) type I. Materials and methods. On the basis of a consultative and outpatient department of SI «Institute of Traumatology and Orthopaedy of NAMSU» 48 patients with VDDR type I were observed and treated. Medical treatment of patients with rickets was performed in 4 steps. Stage 1 consisted of a full examination of the patient, including serum calcium, serum phosphorus, urine tests, determination of calcidiol and serum calcitriol, indicators of parathyroid hormone and osteocalcin, as well as a marker of bone formation P1NP and osteoresorbtion B-CTx. At the first stage, without fail, a genetic test was performed in the children to detect changes (polymorphisms) in alleles of receptors to vitamin D and type I collagen. At the next stages the survey was conducted in its entirety, except for genetic research. Results. Comprehensive study of vitamin D metabolism and biochemical indices of vital activity of bone tissue in patients with VDDR type 1 allowed come close to understanding of some issues of pathogenesis and nature of osteomalation changes and in future of osteoporotic changes on different levels, to objectify these changes in relevant indicators of biochemical research and, depending on changes, develop different schemes of medical treatment of this disease. Conclusion. For medical treatment of VDDR1 alfacalcidol is a drug of choice because it could be transformed by the liver into calcitriol, passing genetically damaged renal 1α hydroxylation. On the basis of biochemical indices in patients with vitamin-D-depended rickets type 1 pathogeneticall substantiated rational effective drug therapy of orthopedic manifestations that includes cholecalciferol (80.000 U per month) and alfacalcidol (7.5 mg per month). The proposed treatment provides significant improvement in bone metabolіsm by biochemical and clinical indicators after the first month of three-month treatment (p < 0.05).


vitamin-D-dependent rickets; rickets, vitamin D metabolism; calcidiol; calcitriol; lower extremities deformities in children


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