THE ROLE OF MOLECULAR GENETIC ANALYSIS IN THE DIAGNOSIS OF VITAMIN D-RESISTANT RICKETS

Abstract

Vitamin D-resistant rickets, particularly hereditary 1,25-dihydroxyvitamin Dresistant rickets (HVDRR), is a rare genetic disorder characterized by the body's resistance to the active form of vitamin D. This condition is primarily caused by mutations in the vitamin D receptor (VDR) gene, leading to various clinical manifestations such as rickets, hypocalcemia, and alopecia. Molecular genetic analysis plays a crucial role in diagnosing this condition by identifying specific mutations in the VDR gene.