Department of Orthopedics and Musculoskeletal Disorders, The Institute of Traumatology and Orthopedics of the NAMS, UkraineFulltext PDF
Aim: Determination the effects of medical therapy for genetically caused disorders of bone metabolism in patients with vitamin D-dependent rickets type 1. Materials and Methods: In the consultative and out-patient department of State institution "Institute of Traumatology and Orthopedics National of the Ukrainian academy of medical sciences" we have examined and treated 48 patients with a diagnosis of VDDR-1. Medical treatment of these patients was carried out along the 4 stages. The 1st stage included a full examination of the patient including serum calcium, serum and urine phosphorus, determination of serum calcidiol and calcitriol, indices of parathyroid hormone and osteocalcin, as well as bone formation’s marker P1NP and bone resorption’s marker B-CTx. At the first stage, the children mandatorily were exposed to genetic test to detect changes (polymorphisms) in alleles of receptors to vitamin D (VDR) and type 1 collagen (COL1). The studies at the next stages were conducted completely, except for genetic research. Results: Comprehensive study of vitamin D metabolism and biochemical indices of bone tissue viability among patients with VDDR-1 contributed to better understanding of some topics of pathogenesis and nature of osteomalation changes and subsequent osteoporotic alterations at different levels as well as to objectification of these changes in relevant biochemical indices and depending on changes to development if the different regimens of drug treatment in this disease. Conclusion: For medical treatment of VDDR-1 alfacalcidol is the drug of choice because it has the ability to be transformed by the liver into calcitriol, avoiding genetically affected renal 1α hydroxylation. Taking into account bio chemical indices among patients with VDDR-1we have developed pathogenesis-oriented effective drug therapy of orthopedic manifestations that includes (80,000 IU/ month) and alfacalcidol (7.5 mg/month). The offered treatment provides significant improvement in bone metabolism represented in biochemical and clinical parameters after the first month of three-month stage of treatment (p<0.05).
Vitamin D-dependent rickets; Rickets; Vitamin D metabolism; Calcidiol; Lower extremities’ deformities in children
Martsyniak SM. Medical Treatment of Bone Metabolism’s Disorders among Patients with Vitamin-D Dependent Rickets Type 1. Ann Orthop Musculoskelet Disord. 2019;2(1):1022.