Vitamin D receptor mutations might cause hereditary vitamin D-resistant rickets

Created December 2018

Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.

Bonekey Rep. 2014 Mar 5;3:510. doi: 10.1038/bonekey.2014.5. eCollection 2014.

Feldman D1, J Malloy P2.

1 Department of Medicine, Stanford University , Stanford, CA, USA.

2 Department of Pediatrics, Stanford University , Stanford, CA, USA.

Hereditary Vitamin D-resistant rickets is a form which is not treated by Vitamin DPerhaps Resveratrol, Boron, Zinc, Magnesium etc, which improve the VDR, could be used to treat Hereditary Vitamin D-resistant ricketsSearch Vitamin D Life for "RESISTANT RICKETS 195 items as of Dec 2018 1. Vitamin D Receptor category has the following{include} 1. Overview of Rickets and vitamin D contains the following summary{include}---Items in both categories Rickets and Receptor are listed here: {category}

📄 Download the PDF from Vitamin D Life

Heterogeneous loss of function mutations in the vitamin D receptor (VDR) interfere with vitamin D signaling and cause hereditary vitamin D-resistant rickets (HVDRR). HVDRR is characterized by hypocalcemia, secondary hyperparathyroidism and severe early-onset rickets in infancy and is often associated with consanguinity. Affected children may also exhibit alopecia of the scalp and total body. The children usually fail to respond to treatment with calcitriol; in fact, their endogenous levels are often very elevated. Successful treatment requires reversal of hypocalcemia and secondary hyperparathyroidism and is usually accomplished by administration of high doses of calcium given either intravenously or sometimes orally to bypass the intestinal defect in VDR signaling .

Tags: Rickets Vit D Receptor