Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1).
Fiche publication
Date publication
mai 2020
Journal
Calcified tissue international
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis, Dr OUSSALAH Abderrahim
Tous les auteurs :
Wiedemann A, Renard E, Molin A, Weryha G, Oussalah A, Guéant JL, Feillet F
Lien Pubmed
Résumé
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 D. 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) 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.
Mots clés
Adults, Bone mass density, CYP2R1, Rickets, Vitamin D
Référence
Calcif. Tissue Int.. 2020 May 19;: