Hypophosphatemic rickets: pathogenesis, diagnosis and treatment

Abstract

Hypophosphatemic rickets (HR) - a group of diseases characterized by the development of ricketic changes in bone tissue due to increased excretion of phosphorus from the body. This form of rickets is the most common among variants of genetically determined forms of disturbances in mineral metabolism. HR is an actual medical and social problem, requiring constant updating of knowledge of both endocrinologists and doctors of other profile. This is due to the fact that the clinical picture of HR has a significant heterogeneity and can manifest as severe deformations of the skeleton, delay in physical development, severe muscle hypotension, frequent fractures, tooth abscesses, which in some cases leads to disability of the patient and, accordingly, reduces the quality of life. Timely diagnosis and adequate therapy of HR is extremely important for preventing the development of severe complications. Currently, more than 10 candidate genes are known, the defects in which lead to the development of congenital forms of GFR. Genetic diagnostics of the HR is of great importance for determining the form of the HR, and for carrying out genetic counseling of families when planning pregnancy.