[Rickets resistant to calcitropic hormones].
Resistance to vitamin D is known since a long time but was erroneously ascribed to phosphate deficiency (phosphate diabetes or deficiency in tubular phosphate reabsorption). True vitamin D resistance can either be due to lack of the receptor itself or to structural abnormality in the hormone -or DNA-binding site of the receptor whereas in a few cases post-receptor resistance has been documented. In view of the therapeutic consequences, diagnosis of vitamin D resistance is needed in every case of rickets not due to simple vitamin D deficiency. Such cases can be easily recognized by normal 25-hydroxyvitamin D concentration in the presence of biochemical, radiological or/and histological signs of rickets.
Vainsel
M
M
Hôpital Saint-Pierre, Bruxelles.
Bouillon
R
R
D004351:Drug Resistance; D006801:Humans; D006887:Hydroxycholecalciferols / Q000097:blood; D007015:Hypophosphatemia, Familial / Q000097:blood / Q000378:metabolism*; D018167:Receptors, Calcitriol / Q000378:metabolism; D014807:Vitamin D / Q000378:metabolism*
D006887:Hydroxycholecalciferols; D018167:Receptors, Calcitriol; D014807:Vitamin D