hrp0097lb9 | Late Breaking | ESPE2023

Clinical Characteristics and Long-Term Management for Patients with Vitamin D-dependent Rickets Type II: A Retrospective Study in Saudi Arabia

Binladen Amal , Alsagheir Afaf , Alhuthil Raghad

Background: Hereditary Vitamin D-Resistant Rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) resulting in end organ resistant to 1a,25-dihydroxyvitamin D, [1,25(OH)2D]. Majority of HVDRR has Elevated 1, 25(OH)2D which is a hallmark for diagnosis of this disease. High doses of vitamin D, oral calcium and most importantly IV calcium infusion are the mode of therapy in HVDRR.A...