Serum 1,25-dihydroxyvitamin D concentration in hypophosphatemic vitamin D-resistant rickets

1981 ◽  
Vol 33 (1) ◽  
pp. 173-175 ◽  
Author(s):  
Edgard E. Delvin ◽  
Francis H. Glorieux
Keyword(s):  
Vitamin D ◽  
Dihydroxyvitamin D ◽  
1,25 Dihydroxyvitamin D ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

scholarly journals Familial vitamin D resistant rickets: End-organ resistance to 1,25-dihydroxyvitamin D

2013 ◽  
Vol 17 (7) ◽  
pp. 224 ◽  
Author(s):  
Salam Ranabir ◽  
Sangita Choudhury ◽  
KFelix Jebasingh ◽  
Th Premchand Singh
Keyword(s):  
Vitamin D ◽  
Dihydroxyvitamin D ◽  
1,25 Dihydroxyvitamin D ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation

2018 ◽  
Vol 31 (8) ◽  
pp. 861-868 ◽  
Author(s):  
Muhammad Faiyaz-Ul-Haque ◽  
Waheeb AlDhalaan ◽  
Abdullah AlAshwal ◽  
Bassam S. Bin-Abbas ◽  
Afaf AlSagheir ◽  
...  
Keyword(s):  
Vitamin D ◽  
Target Genes ◽  
Clinical Symptoms ◽  
Active Form ◽  
Loss Of Function ◽  
Dihydroxyvitamin D ◽  
1,25 Dihydroxyvitamin D ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

Abstract Background: Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which heterodimerizes with the retinoid X receptor to regulate the expression of target genes. Inactivating mutations in the VDR gene cause hereditary vitamin D-resistant rickets (HVDRR), a rare disorder characterized by an early onset of rickets, growth retardation, skeletal deformities, hypocalcemia, hypophosphatemia and secondary hyperparathyroidism, and in some cases alopecia. Methods: We describe eight new HVDRR patients from four unrelated consanguineous families. The VDR gene was sequenced to identify mutations. The management of patients over a period of up to 11 years following the initial diagnosis is assessed. Results: Although all patients exhibit main features of HVDRR and carry the same c.885C>A (p.Y295*) loss of function mutation in the VDR gene, there was heterogeneity of the manifestations of HVDRR-associated phenotypes and developmental milestones. These eight patients were successfully treated over a period of 11 years. All clinical symptoms were improved except alopecia. Conclusions: The study concludes that VDR sequencing and laboratory tests are essential to confirm HVDRR and to assess the effectiveness of the treatment.

scholarly journals Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

2014 ◽  
Vol 111 (1) ◽  
pp. 33-40 ◽  
Author(s):  
Peter J. Malloy ◽  
Velibor Tasic ◽  
Doris Taha ◽  
Filiz Tütüncüler ◽  
Goh Siok Ying ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Dihydroxyvitamin D ◽  
1,25 Dihydroxyvitamin D ◽  
Resistant Rickets
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