Hypophosphatemic rickets: easy to diagnose, difficult to treat

Hypophosphatemic rickets (HR) has generated a lot of interest in recent times. There is need to recognize this disorder and differentiate it from the more common nutritional rickets because the therapy is different. It is also important to emphasize that a detailed clinical examination with pedigree analysis and easily available biochemical tests are adequate to establish the diagnosis in most cases. This report presents three families with hypophosphatemic rickets. Interestingly, many of these patients had a mixed picture of HR and nutritional rickets. Their important features are described with special emphasis on early initiation of treatment with oral phosphate and stringent monitoring of renal functions to prevent development of irreversible renal insufficiency.