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Osteoporosis International

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01-06-2015 | Case Report

Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations

Authors: F. M. Damiani, R. M. Martin, A. C. Latronico, B. Ferraz-de-Souza

Published in: Osteoporosis International | Issue 6/2015

Abstract

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.

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Title: Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations
Authors: F. M. Damiani
R. M. Martin
A. C. Latronico
B. Ferraz-de-Souza
Publication date: 01-06-2015
Publisher: Springer London
Published in: Osteoporosis International / Issue 6/2015
Print ISSN: 0937-941X
Electronic ISSN: 1433-2965
DOI: https://doi.org/10.1007/s00198-015-3076-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations

Abstract

Summary

Introduction

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Summary

Introduction

Methods

Results

Conclusions

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