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  • Title: [Vitamin D-resistant rickets type II: apropos of 2 cases].
    Author: Simonin G, Chabrol B, Moulene E, Bollini G, Strouc S, Mattei JF, Giraud F.
    Journal: Pediatrie; 1992; 47(12):817-20. PubMed ID: 1338926.
    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.
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