Vitamin D deficiency rickets mimicking pseudohypoparathyroidism.
Vitamin D deficiency rickets mimicking pseudohypoparathyroidism.
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DOI：
10.4274/jcrpe.v2i4.173
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发表时间：
2010
影响因子：
1.9
通讯作者：
Kendirici M
中科院分区：
文献类型：
--
作者：
Akın L;Kurtoğlu S;Yıldız A;Akın MA;Kendirici M
维生素D缺乏症是一种以血清碱性磷酸酶(ALP)活性升高、血钙和无机磷浓度正常或降低、继发性甲状旁腺功能亢进和血清25−羟基维生素D(25(OH)D)水平降低为特征的疾病。在第1期VDDR中，尿氨基酸和磷酸盐排泄正常，在X线片上发现很少或没有软骨病。假性甲状旁腺功能减退症是一种遗传性疾病，其特征是−末端器官对甲状旁腺激素产生抵抗。VDDR在临床表现和生化特征上有时与PHP2型相似，这给这两种疾病的鉴别诊断带来了困难。我们在这里报告一例婴儿被诊断为VDDR。除了维生素D摄入不足外，抗癫痫药物(AED)的使用可能导致维生素D缺乏症的恶化。患者有发热性惊厥的病史，为此他接受了苯巴比妥治疗。低钙血症、高磷血症和正常肾小管重吸收磷酸盐的初步发现，模拟PHP2，对维生素D和口服钙治疗反应良好，血清钙、磷(P)、碱性磷酸酶和甲状旁腺素水平正常化：没有宣布有利益冲突。
Vitamin D deficiency rickets (VDDR) is a disorder biochemically characterized by elevated serum alkaline phosphatase (ALP) activity, normal or decreased serum calcium (Ca) and inorganic phosphate concentrations, secondary hyperparathyroidism and decreased serum 25−hydroxyvitamin D (25(OH)D) levels. In stage 1 VDDR, urinary amino acid and phosphate excretion are normal with minimal or no findings of rickets on radiographs. Pseudohypoparathyroidism (PHP) is an inherited disorder characterized by end−organ resistance to parathormone (PTH). VDDR occasionally resembles PHP type 2 in clinical presentation and biochemical features, creating difficulties in the differential diagnosis of these two entities. Here we report an infant diagnosed with VDDR. In addition to inadequate vitamin D intake, usage of antiepileptic drugs (AED) may have led to the worsening of the vitamin D deficiency. The patient presented with a history of febrile convulsions, for which he received phenobarbital treatment. The initial findings of hypocalcemia, hyperphosphatemia and normal tubular reabsorption of phosphate, mimicking PHP 2, responded well to vitamin D and oral Ca treatment with normalization of serum Ca, phosphorus (P), ALP and PTH levels Conflict of interest:None declared.