Crystal Structures of Hereditary Vitamin D-Resistant Rickets-Associated Vitamin D Receptor Mutants R270L and W282R Bound to 1,25-Dihydroxyvitamin D3and Synthetic Ligands

2013 ◽  
Vol 56 (17) ◽  
pp. 6745-6760 ◽  
Author(s):  
Makoto Nakabayashi ◽  
Yoshito Tsukahara ◽  
Yukiko Iwasaki-Miyamoto ◽  
Mika Mihori-Shimazaki ◽  
Sachiko Yamada ◽  
...  
Keyword(s):  
Vitamin D ◽  
Crystal Structures ◽  
Vitamin D Receptor ◽  
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

Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes

2017 ◽  
Vol 30 (4) ◽  
Author(s):  
Rabih Andary ◽  
Abdul-Karim El-Hage-Sleiman ◽  
Theresa Farhat ◽  
Sami Sanjad ◽  
Georges Nemer
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Sanger Sequencing ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Normal Phenotype ◽  
Vitamin D Resistant Rickets ◽  
Exon 9 ◽  
Homozygous Mutations ◽  
Resistant Rickets

Abstract:Background:Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder caused by mutations in the vitamin D receptor (Methods:We examined four patients with HVDRR from three unrelated Lebanese families. All parents were consanguineous with normal phenotype. We used Sanger sequencing to identify mutations in the coding exons ofResults:Two homozygous mutations (p.R391S and p.H397P), both in exon 9 of theConclusions:This is the first report of

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.

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