Hypophosphatemic Rickets

Diagnosis involves a combination of clinical evaluation, laboratory tests, and imaging. Blood tests typically show low phosphate levels, normal or elevated calcium, and elevated alkaline phosphatase. FGF23 levels may be elevated in FGF23-related forms. Genetic testing helps confirm the diagnosis and identify the specific subtype. X-rays may reveal rickets-like changes in the bones, including metaphyseal cupping and fraying. Dental examination may show characteristic abnormalities such as enlarged pulp chambers or early tooth loss.

Traditional treatment includes oral phosphate supplements and active vitamin D analogs such as calcitriol or alfacalcidol to support bone mineralization. This approach helps manage symptoms but may be associated with complications such as hyperparathyroidism or nephrocalcinosis. More recently, a targeted therapy called burosumab, a monoclonal antibody against FGF23, has been approved for use in children and adults with X-linked hypophosphatemia. Burosumab helps restore phosphate levels and improve bone health more effectively than conventional treatments. Multidisciplinary care, including input from endocrinologists, nephrologists, orthopedists, and dentists, is essential for optimal long-term outcomes.