[Vitamin D-resistant rickets type II: apropos of 2 cases].
We present two cases of vitamin D-dependent rickets type II, a rare disease caused by a hereditary disorder of the receptor for 1,25 dihydroxyvitamin D (1,25 (OH) 2 D). The first patient was seen for the first time at the age of 2 years with florid rickets, almost complete alopecia, and an elevated plasma level of 1,25 (OH) 2 D; there was no improvement following treatment with 1 alpha-hydroxy-vitamin D3). The second patient, a boy whose parents are first cousins, was seen at the age of 7 years with severe rickets, partial alopecia and an elevated serum level of 1,25 (OH) 2 D; the rickets disappeared after administering high doses of 1 alpha hydroxyvitamin D3 and vitamin D.
Simonin
G
G
Service de pédiatrie, hôpital d'enfants de La Timone, Marseille, France.
Chabrol
B
B
Moulene
E
E
Bollini
G
G
Strouc
S
S
Mattei
J F
JF
Giraud
F
F
D000505:Alopecia / Q000150:complications; D002117:Calcitriol / Q000097:blood; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D007015:Hypophosphatemia, Familial / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D008297:Male
D006887:Hydroxycholecalciferols; D002117:Calcitriol; C008088:alfacalcidol
Rachitisme vitamino-résistant de type II: à propos de deux observations.