This review will discuss the syndrome of hereditary hypocalcemic rickets due to generalized resistance to the action of the active vitamin D hormone, 1 alpha, 25-dihydroxyvitamin D. Historically, this entity usually has been refered to as "vitamin D-dependent rickets, type II" (VDDR II). However, now that the biochemical basis of the disease is understood, we prefer the terminology "hereditary vitamin D-resistant rickets" (HVDRR). In order to describe the syndrome of HVDRR, we will first briefly discuss the vitamin D endocrine system, the mechanism of action of 1,25(OH)2D, and the nature of the vitamin D receptor (VDR). After this background is presented, we will then portray the syndrome of HVDRR and detail the heterogeneous mutations in the VDR that cause the vitamin D-resistance state. Various aspects of vitamin D metabolism and action as well as the syndrome of HVDRR recently have been reviewed in the volume entitle Vitamin D (1).
Mendeley saves you time finding and organizing research
Choose a citation style from the tabs below