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

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• 作者：F. M. Damiani ; R. M. Martin ; A. C. Latronico…
• 关键词：Bone health ; Bone mass ; Calcium homeostasis ; Hereditary vitamin D ; resistant rickets ; Vitamin D ; Vitamin D receptor
• 刊名：Osteoporosis International
• 出版年：2015
• 出版时间：June 2015
• 年：2015
• 卷：26
• 期：6
• 页码：1819-1823
• 全文大小：1,105 KB
• 参考文献：1.Ross AC, Taylor CL, Yaktine AL, Del Valle HB (2011) Institute of Medicine (US) Committee to Review Dietary Reference Intakes for Vitamin D and Calcium: dietary reference intakes for calcium and vitamin D. National Academies Press, Washington
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• 作者单位：F. M. Damiani (1)
  R. M. Martin (1)
  A. C. Latronico (1)
  B. Ferraz-de-Souza (1)
  
  1. Division of Endocrinology and Laboratory of Medical Investigation 18 - LIM-18, Hospital das Clínicas da Faculdade de Medicina da Universidade de S?o Paulo, Av Dr Arnaldo, 455 sala 3324 (LIM-18), S?o Paulo, SP, 01246-903, Brazil
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Orthopedics
  Gynecology
  Endocrinology
  Rheumatology
  
• 出版者：Springer London
• ISSN：1433-2965

文摘

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.