Clinical and Radiological Manifestations of Different Types of Vitamin D-dependent Rickets

S.M. Martsyniak, N.O. Naumenko, T.A. Kincha-Polishchuk, A.M. Zyma

Abstract


Objective of the study — coverage of the clinical and radiological manifestations of vitamin D-dependent rickets type 1 and 2, features of their course depending on the type of disease and the patient’s age, objective evaluation of orthopedic status with the possibility of predicting the degree of deformities of the lower limbs.
Material and methods. Using clinical and radiographic methods, there were examined 29 children with vitamin D-dependent rickets type 1 and 2 (11 girls and 18 boys). We have used conventional radiography in standard direct and lateral projections to obtain images of limb segment over the entire length.
Results. It was found that in vitamin D-dependent rickets type 1, clinical signs occur at the 1st — 2nd years of life in the form of retardation of growth, slowing physical and motor development, muscle weakness, severe skeletal deformation as varus deformity of the lower limbs (64.3 %), less often — valgus and discordant (28.6 and 7.1 %, respectively) ones. There were identified the main typical radiological symptoms, namely: preserving normal general bone structure (absence of osteoporosis), the alteration in the areas of growth (changes in the shape and structure) and deformity of bones, as well as additional signs such as changes in the epiphysis and metaphysis of long bones, compensatory manifestations.
Characteristic features in vitamin D-dependent rickets type 2 were presence of neurological symptoms (anxiety, poor sleep, twitching in the sleep, severe sweating), development of specific multiplanar deformities of femoral and tibial bones. The most common major radiological sign of vitamin-D-dependent rickets type 2, as well as type 1, were changes in the shape and structure of the growth areas, but in combination with osteoporotic changes and strengthening of endochondral ossification zone.
Conclusions. There were detected the presence of significant multiplanar deformities of femoral and tibial bones in patients with vitamin D-dependent rickets type 1 and 2, the severity of these deformities was dependent on the stage of osteomalacic process and the age of the patients. During the comparative analysis of vitamin-D-dependent rickets type 1 and 2, it can be noted that radiological symptoms, which characterize them, are identical. The only difference is their incidence. The evaluation of clinical features of the course of rickets-like hereditary diseases is important both from the standpoint of the predictability of orthopedic manifestations and integrated assessment of the structural and functional state of bone tissue (clinically, radiographically and biochemically).


Keywords


vitamin D; deformation of the lower limbs in children; metabolism of vitamin D; rickets; vitamin D-dependent rickets

References


Новиков П.В. Рахит и наследственные рахитоподобные заболевания у детей: диагностика, лечение, профилактика. — М.: Триада-Х, 2006. — 363 с.

Prader A., Illig R., Heierli E. Eine besondere form der primaeren Vitamin-D-resistant Rachitis mit hipocalciemie und autosomal-domananten Erbgang: die hereditaere Pseudo-Mangelrahitis // Helv. Paediat. Acta. — 1961. — Vol. 16. — P. 452-468.

Arnaud C., Maijer R., Reade T., Scriver C.R., Whe­lan D.T. Vitamin D dependency: an inherited postnatal syndrome with secondary hyperparathyroidism // Pediatrics. — 1970. Dec. — Vol. 46 (6). — Р. 871-880.

Hamilton R., Harrison J., Fraser D., Radde I., Morecki R., Paunier L. The small intestine in vitamin D dependent ri­ckets // Pediatrics. — 1970. — Vol. 45. — № 3. — Р. 364-373.

Fanconi A., Prader A. Hereditary pseudo-vitamin D deficiency rickets // Helv. Paediatr. Acta. — 1969. — Vol. 24. — Р. 423-447.

Brooks M.H., Bell N.H., Love L. et al. Vitamin D-dependent rickets type II; resistance of target organs to 1,25-dihydroxyvitamin D // N. Engl. J. Med. — 1978. — Vol. 298. — Р. 996-999.

Marx S.J., Spiegel A.M., Brown E.M. et al. A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D // J. Clin. Endocrinol. Metab. — 1978. — Vol. 47. — P. 1303-1310.

Beer S., Tieder M., Kohelet D. et al. Vitamin D resistant rickets with alopecia: A form of end organ resistance to 1,25-dihydroxyvitamin D // Clin. Endocrinol. — 1981. — Vol. 77 (5). — Р. 805-811.

Malloy P.J., Weisman Y., Feldman D. Herediatry 1 alpha, 25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain // J. Clin. Endocrinol. Metab. — 1994. — Vol. 78/2. — P. 313-316.

Silver J., Landau H., Bab I., Shvil Y., Friedlaender M.M., Rubinger D. and Popovtzer M.M. Vitamin D-dependent rickets types I and II. Diagnosis and response to therapy // Israel J. Med. Sci. — 1985. — Vol. 21. — P. 53-56.

Alzahrani A.S., Zou M., Baitei E.Y. et al. A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1 // J. Clin. Endocrinol. Metab. — 2010. — Vol. 52 (2).




DOI: https://doi.org/10.22141/1608-1706.5.16.2015.79798

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