Wong G W, Leung S S, Law W Y, Cheung N K, Oppenheimer S J
Department of Paediatrics, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, New Territories.
J Paediatr Child Health. 1994 Oct;30(5):444-6. doi: 10.1111/j.1440-1754.1994.tb00699.x.
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.
II型维生素D依赖性佝偻病是一种罕见的遗传性疾病，由靶器官对1,25-二羟基维生素D3的作用产生抵抗所致。这种疾病的临床表现具有很大的异质性。受影响的患者通常在儿童早期出现佝偻病的临床和生化证据。1,25-二羟基维生素D3的生理替代剂量没有治疗效果。对维生素D代谢物的药理剂量或长期输注钙的反应各不相同。本文报告了一例8岁女孩，其父母为近亲，患有II型维生素D依赖性佝偻病，高剂量口服钙治疗使其生化和放射学指标有明显改善。结论是，高剂量口服钙治疗是II型维生素D依赖性佝偻病患者的一种有效治疗选择。
