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Vitamin D receptor mutations might cause hereditary vitamin D-resistant rickets – March 2015

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.

VitaminDWiki

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

530 studies in Vitamin D Receptor category

Vitamin D tests cannot detect Vitamin D Receptor (VDR) problems
A poor VDR restricts Vitamin D from getting in the cells

See also: 48 studies in the Resveratrol category

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

Health problems include: Autoimmune (19 studies), Breast Cancer (24 studies), Colon Cancer (13 studies), Cardiovascular (23 studies), Cognition (16 studies), Diabetes (24 studies), Hypertension (9 studies), Infant (22 studies), Lupus (6 studies), Metabolic Syndrome (4 studies), Mortality (4 studies), Multiple Sclerosis (14 studies), Obesity (17 studies), Pregnancy (24 studies), Rheumatoid Arthritis (10 studies), TB (8 studies), VIRUS (37 studies),   Click here for details
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:

IncreasingIncreases
1) Vitamin D supplement  Sun
Ultraviolet -B
Vitamin D in the blood
and thus in the cells
2) MagnesiumVitamin 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 VDRVitamin D Receptor
9) BoronVitamin D Receptor ?,
etc
10) Essential oils e.g. ginger, curcuminVitamin D Receptor
11) ProgesteroneVitamin D Receptor
12) Infrequent high concentration Vitamin D
Increases the concentration gradient
Vitamin D Receptor
13) Sulfroaphane and perhaps sulfurVitamin D Receptor
14) Butyrate especially gutVitamin D Receptor
15) BerberineVitamin 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

Rickets category has 127 items

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.


Created by admin. Last Modification: Sunday May 12, 2019 15:52:22 GMT-0000 by admin. (Version 6)

Attached files

ID Name Comment Uploaded Size Downloads
11021 VDR Rickets.pdf admin 08 Dec, 2018 1.34 Mb 771