A homozygous mutation in the DNA binding domain of human vitamin D receptor causes vitamin D resistant rickets

2013 ◽  
Author(s):  
van der Eerden Bram ◽  
van der Heyden Josine ◽  
Piet Hamburger Jan ◽  
Schreuders-Koedam Marijke ◽  
Asmawidjaja Patrick ◽  
...  
Keyword(s):  
Vitamin D ◽  
Dna Binding ◽  
Vitamin D Receptor ◽  
Binding Domain ◽  
Homozygous Mutation ◽  
Dna Binding Domain ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

A homozygous mutation in the DNA binding domain of human vitamin D receptor causes vitamin D resistant rickets

Bone ◽  
2012 ◽  
Vol 50 ◽  
pp. S43
Author(s):  
B.C. van der Eerden⁎ ◽  
J.C. van der Heyden ◽  
J.P. van Hamburg ◽  
M. Schreuders-Koedam ◽  
P.S. Asmawidjaja ◽  
...  
Keyword(s):  
Vitamin D ◽  
Dna Binding ◽  
Vitamin D Receptor ◽  
Binding Domain ◽  
Homozygous Mutation ◽  
Dna Binding Domain ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

Cinacalcet treatment experience in hereditary vitamin D resistant rickets

2020 ◽  
Vol 33 (2) ◽  
pp. 313-318
Author(s):  
Jesús Lucas ◽  
Jose Luis Badia ◽  
Elena Lucas ◽  
Ana Remon
Keyword(s):  
Vitamin D ◽  
Dna Binding ◽  
Vitamin D Receptor ◽  
Binding Domain ◽  
Adjunctive Treatment ◽  
Close Monitoring ◽  
Dna Binding Domain ◽  
Traditional Treatment ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

AbstractBackgroundHereditary vitamin D resistant rickets (HVDRR) is a bone disorder characterized by a phenotype of rickets with onset at early stage of life with elevated alkaline phosphatase, hypocalcemia, hypophosphatemia, hyperparathyroidism and elevated levels of 1,25-dihydroxyvitamin D (calcitriol) as a consequence of the resistance of the vitamin D receptor (VDR). Mutations in the DNA-binding domain of the VDR of the vitamin D receptor have been characterized by a lack of response to traditional treatment with calcium and calcitriol. Secondary hyperparathyroidism and hypophosphatemia are the main factors in its pathogenesis. Cinacalcet is a calciomimetic drug that reproduces the action of calcium by increasing the sensitivity of the calcium-sensitive receptors (CASR) of the parathyroid glands that regulate the secretion of the parathyroid hormone (PTH).Case presentationWe describe its effectiveness and safety in a patient with HVDRR and review other published report cases in the literature. According to published experience, cinacalcet could be used as an adjunctive treatment for the HVDRR with mutations in the DNA-binding domain of the VDR refractory to traditional treatment. Due to lack of knowledge of possible effects of cinacalcet on CASR in the skeleton, long-term use should be avoided.ConclusionsThe optimal dose of cinacalcet for treatment of HVDRR ranges between 0.25 and 0.5 mg/kg/day. Serious side effects of cinacalcet have not been published in this type of patient, although we considered that a close monitoring is necessary in order to detect hypocalcemia.

scholarly journals PIM-1 kinase interacts with the DNA binding domain of the vitamin D receptor: a further kinase implicated in 1,25-(OH)2D3 signaling

2012 ◽  
Vol 13 (1) ◽  
pp. 18 ◽  
Author(s):  
Christina J Maier ◽  
Richard H Maier ◽  
Raphaela Rid ◽  
Andrea Trost ◽  
Harald Hundsberger ◽  
...  
Keyword(s):  
Vitamin D ◽  
Dna Binding ◽  
Vitamin D Receptor ◽  
Binding Domain ◽  
Dna Binding Domain

scholarly journals Relationship of Structure and Function of DNA-Binding Domain in Vitamin D Receptor

Molecules ◽  
2015 ◽  
Vol 20 (7) ◽  
pp. 12389-12399 ◽  
Author(s):  
Lin-Yan Wan ◽  
Yan-Qiong Zhang ◽  
Meng-Di Chen ◽  
Chang-Bai Liu ◽  
Jiang-Feng Wu
Keyword(s):  
Vitamin D ◽  
Dna Binding ◽  
Vitamin D Receptor ◽  
Structure And Function ◽  
Binding Domain ◽  
Dna Binding Domain ◽  
And Function ◽  
Relationship Of
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