Hypophosphatemia with Elevations in Serum Fibroblast Growth Factor 23 in a Child with Jansen's Metaphyseal Chondrodysplasia
Hypophosphatemia with Elevations in Serum Fibroblast Growth Factor 23 in a Child with Jansen's Metaphyseal Chondrodysplasia
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DOI：
10.1210/jc.2008-0220
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发表时间：
2009-01-01
影响因子：
5.8
通讯作者：
McCormick, Kenneth L.
中科院分区：
文献类型：
--
作者：
Brown, Whitney W.;Jueppner, Harald;McCormick, Kenneth L.
内容：以前的研究表明，血清磷，维生素D和成纤维细胞生长因子23（FGF 23），促进磷酸盐的肾脏排泄激素之间的调节关系。尽管存在这些关联，但血清FGF 23的主要调节因子的身份尚未得到解决。詹森氏干骺端软骨发育不良是一种罕见的常染色体显性遗传疾病，伴有短肢侏儒症和其他特征性骨骼异常。这种病症是由PTH/PTHrP受体突变引起的，其导致配体非依赖性cAMP积累，从而使受体具有组成性活性。这些患者通常表现出无症状的高钙血症和低磷酸盐血症，尽管低或检测不到血清水平的PTH和PTHrP.Evidence收购：文献检索显示，血清FGF 23水平尚未在詹森综合征，一种疾病，其中的生化特征提出了一个独特的机会，研究FGF 23和钙-磷-维生素D代谢之间的可能关系的患者进行了研究。本文介绍一例詹森综合征患者，测量血清FGF 23浓度沿着血清磷和1，25（OH）2维生素D水平，并与年龄匹配的对照组进行比较。证据综合：与年龄匹配的健康对照组相比，詹森综合征患者的血清FGF 23浓度显著且持续升高，结论：总之，我们的研究结果表明，血清FGF 23可能受血清磷以外的因素控制，可能是通过激活骨中的PTH/PTHrP受体。（J Clin Endocrinol Metab 94：17-20，2009）
Context: Previous studies have suggested a regulatory relationship between serum phosphorus, vitamin D, and fibroblast growth factor 23 (FGF23), a hormone that promotes renal excretion of phosphate. Despite these associations, the identity of the primary regulator of serum FGF23 is unresolved. Jansen's metaphyseal chondrodysplasia is a rare autosomal dominant disorder associated with short-limbed dwarfism and other characteristic skeletal abnormalities. This condition is caused by mutations in the PTH/PTHrP receptor that result in ligand-independent cAMP accumulation, thus rendering the receptor constitutively active. These patients typically exhibit asymptomatic hypercalcemia and hypophosphatemia despite low or undetectable serum levels of PTH and PTHrP.Evidence Acquisition: A literature search revealed that serum FGF23 levels had not been studied in patients with Jansen's syndrome, a disorder in which the biochemical features present a unique opportunity to study the possible relationship between FGF23 and calcium-phosphorus-vitamin D metabolism. A case of Jansen's syndrome is presented in which serum FGF23 concentrations, along with serum phosphorus and 1,25(OH) 2 vitamin D levels, were measured and compared with those of age-matched controls.Evidence Synthesis: Serum FGF23 concentrations in the patient with Jansen's syndrome were found to be markedly and persistently elevated, compared with values in healthy, age-matched controls, despite hypophosphatemia and normal 1,25(OH) 2 vitamin D levels.Conclusion: Together, our findings indicate that serum FGF23 could be governed by factor(s) other than serum phosphorus, potentially by activation of the PTH/PTHrP receptor in bone. (J Clin Endocrinol Metab 94: 17-20, 2009)