Vitamin D-dependent rickets types I and II. Diagnosis and response to therapy.
The diagnostic value of measuring serum vitamin D metabolites is demonstrated in the present study in which two patients with vitamin D-dependent rickets (VDDR) Types I and II are reported. The patient with sporadic VDDR Type I was severely disabled and unable to walk. Her serum 1,25(OH)2D level was low (32 pg/ml, normal 30 to 60) and she responded dramatically to 1 microgram 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 greater than 500 pg/ml, compatible with end-organ refractoriness to 1,25(OH)2D. He did not respond to daily doses of 1 microgram 1 alpha-hydroxyvitamin D3. These cases demonstrate the striking difference in 1,25(OH)2D levels and therapeutic response to 1,25(OH)2D in these two conditions.
Silver
J
J
Landau
H
H
Bab
I
I
Shvil
Y
Y
Friedlaender
M M
MM
Rubinger
D
D
Popovtzer
M M
MM
D000328:Adult; D000505:Alopecia / Q000150:complications; D002112:Calcifediol / Q000627:therapeutic use; D002118:Calcium / Q000097:blood; D002648:Child; D003404:Creatinine / Q000097:blood; D005260:Female; D006801:Humans; D006887:Hydroxycholecalciferols / Q000097:blood*; D007015:Hypophosphatemia, Familial / Q000097:blood* / Q000150:complications / Q000235:genetics; D008297:Male; D010758:Phosphorus / Q000097:blood; D012279:Rickets / Q000097:blood* / Q000188:drug therapy
D006887:Hydroxycholecalciferols; D010758:Phosphorus; D003404:Creatinine; D002112:Calcifediol; D002118:Calcium