| Literature DB >> 7833085 |
G W Wong1, S S Leung, W Y Law, N K Cheung, S J Oppenheimer.
Abstract
Vitamin D-dependent rickets type II is a rare hereditary disease that results from target organ resistance to the action of 1,25-dihydroxyvitamin D3. There is a great heterogeneity in the clinical presentation of this condition. The affected patients usually present early in childhood with clinical and biochemical evidence of rickets. Physiological replacement dosage of 1,25-dihydroxyvitamin D3 has no therapeutic effect. Responses to pharmacological doses of vitamin D metabolites or long-term calcium infusion have been variable. A case is reported here of an 8 year old girl, of consanguineous parents with vitamin D-dependent rickets, type II, in whom treatment with high dose oral calcium resulted in marked biochemical and radiological improvement. It is concluded that high dose oral calcium treatment is an effective treatment option for patients with vitamin D-dependent rickets type II.Entities:
Mesh:
Substances:
Year: 1994 PMID: 7833085 DOI: 10.1111/j.1440-1754.1994.tb00699.x
Source DB: PubMed Journal: J Paediatr Child Health ISSN: 1034-4810 Impact factor: 1.954