title: [Vitamin D-resistant rickets type II: apropos of 2 cases].
abstract: 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.
authors.affiliation: Service de pédiatrie, hôpital d'enfants de La Timone, Marseille, France.
authors.forename: G
authors.initials: G
authors.lastname: Simonin
authors.forename: B
authors.initials: B
authors.lastname: Chabrol
authors.forename: E
authors.initials: E
authors.lastname: Moulene
authors.forename: G
authors.initials: G
authors.lastname: Bollini
authors.forename: S
authors.initials: S
authors.lastname: Strouc
authors.forename: J F
authors.initials: JF
authors.lastname: Mattei
authors.forename: F
authors.initials: F
authors.lastname: Giraud
mesh_terms: 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
chemical_list: D006887:Hydroxycholecalciferols; D002117:Calcitriol; C008088:alfacalcidol
vernacular_title: Rachitisme vitamino-résistant de type II: à propos de deux observations.