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 D
Perhaps Resveratrol, Boron, Zinc, Magnesium etc, which improve the VDR, could be used to treat Hereditary Vitamin D-resistant rickets
Search VitaminDWiki for "RESISTANT RICKETS 195 items as of Dec 2018
Vitamin D Receptor category has the following
Vitamin D tests cannot detect Vitamin D Receptor (VDR) problems
A poor VDR restricts Vitamin D from getting in the cells
It appears that 30% of the population have a poor VDR (40% of the Obese )
Several diseases protect themselves by deactivating the Vitamin D receptor. Example: Breast Cancer
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The Vitamin D Receptor is associated with many health problems
Some health problems, such as Breast Cancer, Diabetes, and COVID protect themselves by reducing VDR activation
55 health problems associated with poor VDR
A poor VDR is associated with the risk of 55 health problems click here for details
The risk of 48 diseases at least double with poor VDR as of Jan 2023 click here for details
Some health problem, such as Breast Cancer reduce the VDR
VDR at-home test $29 - results not easily understood in 2016
There are hints that you may have inherited a poor VDR
How to increase VDR activation
Compensate for poor VDR by increasing one or more:
| Increasing | Increases |
| 1) Vitamin D supplement Sun Ultraviolet -B | Vitamin D in the blood and thus in the cells |
| 2) Magnesium | Vitamin D in the blood AND in the cells |
| 3) Omega-3 | Vitamin D in the cells |
| 4) Resveratrol | Vitamin D Receptor |
| 5) Intense exercise | Vitamin D Receptor |
| 6) Get prescription for VDR activator paricalcitol, maxacalcitol? | Vitamin D Receptor |
| 7) Quercetin (flavonoid) | Vitamin D Receptor |
| 8) Zinc is in the VDR | Vitamin D Receptor |
| 9) Boron | Vitamin D Receptor ?, etc |
| 10) Essential oils e.g. ginger, curcumin | Vitamin D Receptor |
| 11) Progesterone | Vitamin D Receptor |
| 12) Infrequent high concentration Vitamin D Increases the concentration gradient | Vitamin D Receptor |
| 13) Sulfroaphane and perhaps sulfur | Vitamin D Receptor |
| 14) Butyrate especially gut | Vitamin D Receptor |
| 15) Berberine | Vitamin D Receptor |
Note: If you are not feeling enough benefit from Vitamin D, you might try increasing VDR activation. You might feel the benefit within days of adding one or more of the above
Far healthier and stronger at age 72 due to supplements Includes 6 supplements that help the VDR
Overview of Rickets and vitamin D contains the following summary
Rate of rickets is usually < 0.1% of births, unless dark skin, breastfed, preemie, twin, Mongolian, or Russian
Rate of rickets has greatly increased with the drop in vitamin D levels during the past 40 years
400 IU can prevent/treat most rickets Turkey gave vitamin D to EVERY child and eliminated Rickets
Can have rickets without a low serum level of vitamin D (~20% of the time)
Giving enough Vitamin D to the mother (before and after birth) PREVENTS most forms of Rickets
Rate of rickets in some countries varies from 10% to 70% (typically poor health overall)
Rickets has been more than doubling in many countries
Rickets is strongly associated with severe breathing problems (weak ribs)
Bowed legs is not the primary indication of rickets (3 other indications of rickets are seen more often)
Rickets is typically due to low cellular Vitamin D - April 2024
Some Rickets is due to poor genes - Vitamin D needed lifelong – June 2020
Vitamin D and Rickets consensus took 80 years
Items in both categories Rickets and Receptor are listed here:
Download the PDF from VitaminDWiki
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.
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