Vitamin D Resistant Rickets in a 4-Year-Old Male Child

Abstract

Vitamin D resistant rickets is a rare disorder characterized by impaired bone mineralization despite adequate vitamin D levels. This case report describes a 4-year-old male with growth retardation and leg bowing. Clinical examination and laboratory findings suggested rickets, with normal vitamin D levels but hypophosphatemia and elevated 1,25-dihydroxyvitamin D. Radiographs confirmed rickets, and genetic testing revealed a PHEX gene mutation, diagnosing X-linked hypophosphatemic rickets. Treatment with phosphate supplements and calcitriol improved the patient's condition. This case highlights the importance of recognizing genetic rickets forms and the role of targeted therapy in management.