vitamin D resistant rickets

Last reviewed 01/2018

This is a rare condition characterised by hypophosphataemia, normocalcaemia, and normal or low levels of calcitriol. It is an X-linked dominant disorder and affects both males and females.

It is attributed to renal phosphate wasting and possibly, impaired intestinal absorption of calcium.

In some cases there is calcification of the interspinal ligaments.

Treatement is with oral phosphate and vitamin D.