Hypophosphatemic rickets in children
Hypophosphatémie rickets is a genetically heterogeneous disease accompanied by hypophosphatemia, skeletal (rickets-like) disorders, growth retardation in children with other organs and systems being involved. If early and adequate treatment is not started, the disease leads to disability. Molecular genetic studies could identify eight individual nosological entities and establish their gene loci, chromosomal localization, and types of hereditary transmission. However, the problems of hypophosphatemic rickets therapy have found no definitive solution and remain relevant. The paper reviews an update on the clinical polymorphism and genetic heterogeneity of hereditary hypophosphatemic rickets in children. It shows the results of reconsidering the genetic bases of the disease. The clinical characteristics of individual nosological entities are given. The paper underlines the need for an investigation of the genotypephenotype correlations of hypophosphatemic rickets, which is essential for the elaboration of individualized therapy approaches and an effective medical genetic prediction. The principles of treatment for the disease are presented.