X-LINKED HYPOPHOSPHATEMIC VITAMIN-D-RESISTANT RICKETS

Familial hypophosphatemia, commonly known as vitamin D-resistant rickets, is inherited in an X-linked dominant manner. The basic genetic defect, a selective failure of renal tubular reabsorption of phosphate, results in clinical signs of rickets and characteristic dental manifestations. Defective dentine formation with abnormally large pulp chambers predispose the teeth to pulp exposures and subsequent abscess formation from even normal attrition. Effective strategies for the management of these dental problems are available, hence the importance of early diagnosis. As the skeletal signs of rickets may be mild and easily missed, early recognition of the disease frequently rests on appreciation of the characteristic dental manifestations. It is important that the disease be diagnosed and treatment instituted early if the crippling deformities of rickets are to be avoided.