hrp0092p2-35 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical and Genetic Characteristics of 168 Russian Patients with Hypophosphatemic Rickets

Kulikova Kristina , Kolodkina Anna , Vasiliev Evgeny , Petrov Vasilij , Kenis Vladimir , Petrov Michael , Korkin Anatoly , Gofman Fedor , Tiulpakov Anatoly

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. Taking info account the latest advances in HR therapy, it now becomes of interest to better define the mutational and phenotypic spectra of disease.Objective and Hypotheses: The aim of this study was to clinically characterize and perform genetic analysis of 168 cases with HR.<p class="a...