Conservative treatment of bone tissue metabolic disorders among patients with vitamin D-dependent rickets type II with genetic abnormality of type I collagen formation


  • S.M. Martsyniak State Institution “Institute of Traumatology and Orthopaedics of the NAMS of Ukraine”, Kyiv, Ukraine



vitamin-D-dependent rickets, rickets, vitamin D metabolism, calcidiol, calcitriol, lower limb deformity in children


Background. The purpose of the article is to determine the effect of conservative therapy on genetically caused disorders of bone tissue metabolism in patients with vitamin D-dependent rickets type II and genetic abnormality of type I collagen formation (VDDR(COL1)). Materials and methods. At the premises of consulting and outpatient department of SI “Institute of Traumatology and Orthopaedics of the NAMS of Ukraine”, 13 patients having VDDR type II and genetic damage of type I collagen formation were examined and treated. The medical treatment was conducted in four stages. The first stage included full examination of patients (calcium and phosphorus levels in the blood serum and their urinary excretion, as well as determination of calcidiol and calcitriol serum levels, indicators of parathyroid hormone and osteocalcin, and a marker of bone formation P1NP and osteoresorption b-CTx). At this stage, children were obligated to undergo a genetic test to detect changes (polymorphism) in alleles of receptors to vitamin D and type I collagen. Besides genetic tests, examinations at the other stages were conducted in full. Results. The study has shown the following. The genetically caused abnormality of reception to vitamin D results into substantial accumulation of vitamin D active metabolite in the blood serum. When combined with gene­tic abnormality of type I collagen formation, it significantly affected bone formation and destruction processes that causes development of osteomalacia (parathormone — vitamin D — osteocalcin system). The comprehensive study of vitamin D metabolism and biochemical vitals of bone tissue in patients having VDDR (COL1) brought us to understanding of some issues related to pathogenesis and nature of osteomalacia and, in future, osteoporotic changes on different levels, ensured us to express these changes by corresponding indices in the biochemical research and, finally, to develop appropriate schemes for the treatment of bone metabolism abnormalities existing at this disease. Conclusions. The impaired reception to calcitriol, when combined with genetic abnormality of type I collagen formation, shows the most serious bone tissue metabolism disorders in patients with vitamin D-dependent rickets, that further causes bone metabolism acceleration and osteomalation progression in the body of a growing child, as well as substantial acceleration of bone tissue resorption. In our opinion, the cause of the aforesaid phenomenon is formation of compromised collagen, which the child’s organism tries to rebuild; however, this assumption requires further study.


Download data is not yet available.


Martsynyak SM, Kincha-Polischuk TA. Bone metabolism in patients with vitamin-d-dependent rickets type 2 with formation of violation of collagen type 1. Problemy osteologii'. 2015;18(4):29-33. (in Ukrainian).

Kadurina TI, Gorbunova VN. Displaziia soedinitel'noi tkani [Connective tissue dysplasia]. Saint-Petersburg: Elbi; 2009. 714 p. (in Russian).

Alzahrani AS, Zou M, Baitei EY, et al. A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1. J Clin Endocrinol Metab. 2010 Sep;95(9):4176-83. doi: 10.1210/jc.2009-2278.

Brooks MH, Bell NH, Love L, et al. Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. N Engl J Med. 1978 May 4;298(18):996-9. doi: 10.1056/NEJM197805042981804.

Chan JC. Renal hypophosphatemic rickets - a review. Int J Pediatr Nephrol. 1982 Dec;3(4):305-10. PMID: 6762360.

Econs MJ, Drezner MK. Bone disease resulting from inherited disorders of renal tubule transport and vitamin D metabolism. In: Coe FL, Favus MJ, editors. Disorders of Bone and Mineral Metabolism. New York: Raven Press, 1992. p.935-950.

Fu GK, Portale AA, Miller WL. Complete structure of the human gene for the vitamin D 1α-hydroxylase, P450c1α. DNA Cell Biol. 1997 Dec;16(12):1499-507. doi: 10.1089/dna.1997.16.1499.

Holick MF. The use and interpretation of assays for vitamin D and its metabolites. J Nutr. 1990 Nov;120 Suppl 11:1464-9. PMID: 2243289.

Katavetin P, Katavetin P, Wacharasindhu S, Shotelersuk V. A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling. Horm Res. 2006;66(6):273-6. doi: 10.1159/000095546.

Katz EP, Li ST. The intermolecular space of reconstituted collagen fibrils. J Mol Biol. 1973 Feb 19;73(3):351-69. PMID: 4686200.

Reade TM, Scriver CR, Glorieux FH, et al. Response to crystalline 1alpha-hydroxyvitamin D3 in vitamin D dependency. Pediatr Res. 1975 Jul;9(7):593-9. DOI: 10.1203/00006450-197507000-00008.

Silver J, Landau H, Bab I, et al. Vitamin D-dependent rickets types I and II. Diagnosis and response to therapy. Isr J Med Sci. 1985 Jan;21(1):53-6. PMID: 2982764.

Tohmé JF, Seibel MJ, Silverberg SJ, Robins SP, Bilezikian JP. Biochemical markers of bone metabolism. Z Rheumatol. 1991 May-Jun;50(3):133-41. PMID: 1927060.

Whitfield GK, Selznick SH, Haussler CA, et al. Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner. Mol Endocrinol. 1996 Dec;10(12):1617-31. doi: 10.1210/mend.10.12.8961271.



How to Cite

Martsyniak, S. (2021). Conservative treatment of bone tissue metabolic disorders among patients with vitamin D-dependent rickets type II with genetic abnormality of type I collagen formation. PAIN, JOINTS, SPINE, 7(3), 120–126.



Original Researches