Diagnosis of genetic forms of rickets in children

Abstract

Results of examinations of 121 children with genetic forms of rickets were used to develop criteria for the diagnosis and differential diagnosis of vitamin D-resistant and vitamin D-dependent rickets, renal tubilar acidosis, and de Toni—Debre—Fanconi's disease. The severity of genetic forms of rickets was found related to manifestation of metabolic disorders. 'Triggering mechanisms of mineral metabolism disorders in a child's body were revealed, which were related to abnonnal vitamin D metabolism in cases with vitamin D-resistant and negatice rickets and to genetic defects of the proximal and distal renal canaliculi. Roentgenography of skeletal bones helped detect a number of important symptoms characteristic of osteomalacia, osteoporosis, osteosclerosis, and combinations thereof. Roentgenography of the hand with magnification x3—4 demonstrated a high informative value of the method and confirmed the similarity of structural disorders in the bones of the hand and other skeletal zones.

Keywords

rickets / genetically determined forms / children / diagnosis

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