ABSTRACT
In search for x-ray signs of skeletal involvement specific for each type of hereditary tubulopathies, the authors analyze the results of clinical and x-ray examinations of 144 children aged 2 to 16. Vitamin D-resistant rickets which was diagnosed in 83 children was found to be characterized by varus deformations of the lower limb bones, by systemic osteoporosis of various degrees with hypertrophy of the osseous beams in the epimetaphyseal compartments and accelerated bone age. In renal tubular acidosis diagnosed in 28 children the most typical findings were valgus deformation of the lower limb bones, an appreciable deceleration of bone age, systemic osteoporosis with thinning of osseous beams, the degree of bone deformation being the minimal or moderate. In 20 children with the de Toni-Debre--Fanconi disease the most frequent finding were valgus deformations of the lower limb bones, osteoporosis with drastic thinning of osseous beams unrelated to the degree of deformations and deceleration of bone age. Vitamin D-dependent rickets diagnosed in 13 children was characterized by varus deformations of the lower limb bones, hypertrophic osteoporosis, and normal parameters of bone age. Hence, our study demonstrated the possibility and high reliability of x-ray differential diagnosis of various forms of hereditary tubulopathies in children.
