Hereditary Vitamin D Resistant Rickets (HVDRR) Case Series: Phenotype, Genotype, Conventional Treatment, and Adjunctive Cinacalcet Therapy

This study examined 8 patients with hereditary vitamin D resistant rickets (HVDRR) from 5 Saudi families, all of whom exhibited alopecia and secondary hyperparathyroidism. Genetic analysis identified 3 distinct mutations in the vitamin D receptor gene. Four patients were treated with high-dose calcium alone, while the other 4 received additional cinacalcet, a calcimimetic. The use of cinacalcet showed promise in improving serum PTH levels without causing hypocalcaemia, suggesting it may be a safe and valuable adjunctive therapy. However, the response to treatment varied, and further research is needed to confirm these findings.