Current perspective on medical management, orthopedic treatment, and the use of the Ilizarov method in children with X-linked hypophosphatemic rickets

Hypophosphatemic rickets encompasses a group of rare metabolic diseases that cause lower limb bowing and growth impairment. The mainstay of its management rests in frequent dosages of oral phosphate salts and active vitamin D derivatives. Recent developments in therapy reduced severe pathology progression. However, there remains a substantial number of patients suffering from persisting or recurring deformities. Treatment of those resistant to conventional therapy is the domain of orthopedic surgery. Although multiple recommended approaches exist, no single method has been proven superior to others. In this article, the authors review the effectiveness of several surgical techniques, with a focus on the Ilizarov frame. The method allows for a noninvasive and accurate correction but is technically demanding and imposes a prolonged treatment period. Modern alterations of both the procedure and the original construct aim to improve patient compliance while maintaining the same healing index. Nevertheless, research carried out on small groups of patients and the utilization of different assessment tools for each technique hinders the determination of standardized guidelines. The choice of a given method boils down to an individual approach and strongly depends on the surgeon’s experience and preferences.