Skip to Content

vitamin D-resistant rickets


Definition: a group of metabolic disorders characterized by renal tubular defects in phosphate transport and bone abnormalities resulting in hypophosphatemic rickets or osteomalacia; hypocalcemia and tetany are not features. There is an autosomal dominant form [MIM*193100] and an X-linked dominant form [MIM*307800], the latter caused by mutation in the phosphate-regulating gene with homologies to endopeptidases (PHEX) on chromosome Xp. Both forms are not responsive to standard therapeutic doses of vitamin D but they may respond to very large doses of phosphate and/or vitamin D. There is also an autosomal recessive form [MIM*277440] caused by mutation in the vitamin D receptor gene (VDR) on 12q. Also sometimes called vitamin D–dependent rickets type II.

Synonym(s): familial hypophosphatemic rickets

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.