| Full text | |
| Author(s): |
Damiani, F. M.
;
Martin, R. M.
;
Latronico, A. C.
;
Ferraz-de-Souza, B.
Total Authors: 4
|
| Document type: | Journal article |
| Source: | OSTEOPOROSIS INTERNATIONAL; v. 26, n. 6, p. 1819-1823, JUN 2015. |
| Web of Science Citations: | 6 |
| Abstract | |
A Summary Adding to the debate around vitamin D's effects on skeletal health, we report the long-term follow-up of two patients with severe vitamin D receptor mutations, who had normal bone mass acquisition and normalization of calcemia around puberty, suggesting that vitamin D might not be essential for skeletal health in adulthood. Introduction Vitamin D plays a pivotal role in calcium homeostasis, and the consequences of vitamin D insufficiency for skeletal health, as well as the importance of its supplementation, are a matter of great interest. Individuals bearing homozygous vitamin D receptor (VDR) defects present with severe hypocalcemic rickets in early infancy due to vitamin D resistance. Methods Here, we report the follow-up of two patients with hereditary vitamin D-resistant rickets (HVDRR), focusing on bone mass acquisition and evolution of calcemia. Results Patient 1 is a 30-year-old male bearing a homozygous p.Arg30{*} nonsense mutation in the VDR DNA-binding domain, who presented at 6 months. From 9 years of age, treatment requirement decreased progressively. Follow-up with DXA showed normal bone mass acquisition. In adulthood, he maintains normocalcemia without calcium supplementation and has no signs of bone fragility. Patient 2 is a 37-year-old female with milder HVDRR and alopecia due to a homozygous p.Gly319Val mutation in the VDR ligand-binding domain. Around puberty, hypercalciuria and kidney stones were detected, resulting in suspension of treatment. Follow-up with DXA revealed normal bone mass, and she maintained normocalcemia without supplementation during gestation and lactation. Conclusions The long-term follow-up of HVDRR provides insights into the role of vitamin D in human calcium homeostasis and bone health. The normalization of calcemia and normal bone mass acquisition despite a permanently dysfunctional VDR suggest that vitamin D might not be essential for skeletal health in adulthood. Extrapolation of these findings may have implications in broader clinical settings, especially considering widespread vitamin D supplementation. (AU) | |
| FAPESP's process: | 11/12696-4 - Functional genomic analysis of the transcriptional regulation by nuclear receptors in hereditary Vitamin D resistant rickets |
| Grantee: | Bruno Ferraz de Souza |
| Support Opportunities: | Research Grants - Young Investigators Grants |