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Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1)

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Abstract

Vitamin D-dependent rickets type 1B (VDDR1B) is an autosomal semidominant genetic disorder caused by a deficiency in CYP2R1, which encodes vitamin D 25-hydroxylase, an enzyme that plays a crucial role in the conversion of vitamin D to 25-dihydroxyvitamin D3. VDDR1B is a severe form of rickets that occurs during infancy and which is responsive to 25-OH vitamin D supplementation. We studied three adult patients from a multi-consanguineous family with VDDR1B. They have been diagnosed with pseudo-nutritional rickets and treated during their adolescence with 25-OH vitamin D. These patients stopped their treatments at the end of adolescence and were contacted 14 to 17 years later when VDDR1B diagnosis was carried out in their niece and nephews. These three patients had undetectable 25-OH vitamin D, but normal levels of plasma 1–25(OH)2 vitamin D. All patients had a hip bone mineral density and a normal vertebral despite osteoarthritis degenerative lesions which may impact BMD evaluation. These findings show that vitamin D supplementation has a questionable effect, if any, for osteoporosis prevention in adulthood in contrast to its crucial importance during infancy and adolescence.

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Authors and Affiliations

  1. Reference Center for Inborn Errors of Metabolism, Pediatric Unit, University Hospital of Nancy, Nancy, France

    Arnaud Wiedemann, Emeline Renard & François Feillet

  2. INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France

    Arnaud Wiedemann, Abderrahim Oussalah, Jean-Louis Guéant & François Feillet

  3. Department of Genetics, University Hospital of Caen, Caen, France

    Arnaud Molin

  4. Department of Endocrinology Unit, University Hospital of Nancy, Nancy, France

    Georges Weryha

  5. Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, Department of Molecular Medicine, University Hospital of Nancy, Nancy, France

    Abderrahim Oussalah & Jean-Louis Guéant

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  1. Arnaud Wiedemann
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  2. Emeline Renard
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  3. Arnaud Molin
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  7. François Feillet
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Correspondence to Arnaud Wiedemann.

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Arnaud Wiedemann, Emeline Renard, Arnaud Molin, Georges Weryha, Abderrahim Oussalah, Jean-Louis Guéant, and François Feillet declare that they have no conflict of interest in relation to the present work.

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Wiedemann, A., Renard, E., Molin, A. et al. Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1). Calcif Tissue Int 107, 191–194 (2020). https://doi.org/10.1007/s00223-020-00704-4

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