Publication Details
Abstract
The rickets-like diseases are a diverse group of hereditary disorders of phosphate-calcium metabolism with important diagnostic dilemmas for pediatricians. This is a prospective observational study carried out at the National children's medical center in Tashkent, Uzbekistan during 2024-2025. There were 46 children with rickets-like diseases (main group) and 30 apparently healthy age matched controls aged from 4 months to 16 years. Molecular-genetic diagnosis was confirmed in 82.6 % of the patients (p<0.001). In the genes VDR, CYP27B1, PHEX, and SLC34A3 five recurrent mutations were found, which could indicate a founder effect in the population of Uzbekistan. The results highlight the importance of implementing molecular-genealogic diagnosis in clinical care of rickets-like syndromes in Central Asian populations.