Definition of Rickets, hypophosphatemic

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Rickets, hypophosphatemic: A familial form of rickets characterized by hypophosphatemia (low blood phosphate level), defective intestinal absorption of phosphate, and rickets unresponsive to vitamin D. The basic problem is decreased resorption of phosphate by the tubules in the kidney.

There are two different types of the disorder that are inherited in an X-linked dominant manner. Females typically have less severe disease than males. Treatment of type I is with oral phosphate and calcitriol and responds well. Type II is treated with oral phosphate alone and responds poorly.

Also known as vitamin D resistant rickets.