Medical Definition of Rickets, hypophosphatemic

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Reviewed on 9/7/2018

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.

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Reviewed on 9/7/2018