VITAMIN-D-DEPENDENT RICKETS TYPE-I AND TYPE-II - DIAGNOSIS AND RESPONSE TO THERAPY

  • 1 January 1985
    • journal article
    • research article
    • Vol. 21  (1) , 53-56
Abstract
The diagnostic value of measuring serum vitamin D metabolites was demonstrated and 2 patients with vitamin D-dependent rickets (VDDR) types I and II were reported. The patient with sporadic VDDR type I was severely disabled and unable to walk. Her serum 1,25 (OH)2D [1,25-dihydroxyvitamin D] level was low (32 pg/ml, normal 30 to 60) and she responded dramatically to 1 .mu.g of 1.alpha.-hydroxyvitamin D3 daily. The VDDR type II patient had an autosomal recessive inheritance and total alopecia. His serum 1,25(OH)2D level was > 500 pg/ml, compatible with end-organ refractoriness to 1,25(OH)2D. He did not respond to daily doses of 1 .mu.g 1.alpha.-hydroxyvitamin D3. The striking difference in 1,25(OH)2D levels and therapeutic response to 1,25(OH)2D was demonstrated in these 2 conditions.