A PROSPECTIVE TRIAL OF PHOSPHATE AND 1,25-DIHYDROXYVITAMIN D3 THERAPY IN SYMPTOMATIC ADULTS WITH X-LINKED HYPOPHOSPHATEMIC RICKETS
A PROSPECTIVE TRIAL OF PHOSPHATE AND 1,25-DIHYDROXYVITAMIN D3 THERAPY IN SYMPTOMATIC ADULTS WITH X-LINKED HYPOPHOSPHATEMIC RICKETS
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DOI：
10.1210/jc.75.3.879
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发表时间：
1992-09-01
影响因子：
5.8
通讯作者：
INSOGNA, K
中科院分区：
文献类型：
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作者：
SULLIVAN, W;CARPENTER, T;INSOGNA, K
目前X连锁低磷血症的治疗方法是联合口服磷酸盐和1，25-二羟基维生素D3[1，25-(OH)2D3]。虽然这种药物方案显著改善了儿童的临床病程，但对有症状的成人XLH的药物治疗价值尚未确定。因此，我们调查了16名有症状的成人XLH患者对磷酸盐和1，25-(OH)2D3的临床、生化和组织学反应，平均随访时间为4.2年。87%的患者通过治疗改善了骨骼或关节疼痛。治疗后平均血磷(由0.61+/-0.03增至0.77+/-0.03)和尿钙排泄量(由2.45+/-0.38增至4.39+/-0.44)均显著增加。治疗前的骨活检显示了骨软化症的特征，包括类骨质体积异常增大和矿物质沉积率降低。治疗伴随着类骨质厚度的显著减少以及平均类骨质体积的减少。然而，治疗并没有完全使这些参数正常化。根据组织形态计量学参数评估的疾病严重程度与任何治疗前的血清或尿液生化测量无关，但似乎与症状评分相关。虽然大多数患者对治疗没有困难，但有1名患者在治疗过程中发展为三级性甲状旁腺功能亢进，并在停止治疗后进展为肾功能不全。这项研究提供的证据表明，口服磷酸盐和1，25-(OH)2D3治疗有症状的成人XLH可以导致显著的临床和组织形态计量学的改善。
Current treatment of X-linked hypophosphatemia (XLH) employs the combined administration of oral phosphate and 1,25-dihydroxyvitamin D3 [1,25-(OH)2D3]. Although this drug regimen significantly improves the clinical course of the disease in children, the value of medical treatment in symptomatic adults with XLH has not been established. We, therefore, investigated the clinical, biochemical, and histological responses to phosphate and 1,25-(OH)2D3 in 16 symptomatic adult patients with XLH followed for a mean of 4.2 yr. Eighty-seven percent of the patients had an improvement in bone or joint pain with therapy. There was a significant increase in mean serum phosphate (from 0.61 +/- 0.03 to 0.77 +/- 0.03 mmol/L) and urinary calcium excretion (from 2.45 +/- 0.38 to 4.39 +/- 0.44 mmol/day) with treatment. Pretreatment bone biopsies demonstrated findings characteristic of osteomalacia, including abnormally increased osteoid volume and decreased mineral apposition rates. Treatment was accompanied by a significant decrease in osteoid thickness as well as a reduction in mean osteoid volume. However, therapy did not completely normalize these parameters. Disease severity, as assessed by histomorphometric parameters, did not correlate with any pretreatment serum or urinary biochemical measurement, but did seem to correlate with symptom score. Although most patients tolerated therapy without difficulty, 1 patient developed tertiary hyperparathyroidism during treatment and renal insufficiency that progressed despite cessation of therapy. This study provides evidence that therapy with oral phosphate and 1,25-(OH)2D3 in symptomatic adults with XLH can result in significant clinical and histomorphometric improvement.