Rickets-Like Diseases in Children: Clinical Features, Molecular-Genetic Verification and Mutational Spectrum in The Uzbek Population

Abidova Malika Davron qizi

doi:10.51699/cajmns.v7i3.3281

Authors

Abidova Malika Davron qizi Independent Researcher

DOI:

https://doi.org/10.51699/cajmns.v7i3.3281

Keywords:

Rickets-Like Diseases, Hereditary Hypophosphatemia, Vitamin D-Dependent Rickets, X-Linked Hypophosphatemia, Molecular Genetics, VDR, CYP27B1, PHEX, SLC34A3, Founder Effect, Uzbekistan, Children

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.

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