Zeger Martha Dechert, Adkins Deanna, Fordham Lynn A, White Kenneth E, Schoenau Eckhard, Rauch Frank, Loechner Karen J
Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA.
J Pediatr Endocrinol Metab. 2007 Jan;20(1):79-86. doi: 10.1515/jpem.2007.20.1.79.
Opsismodysplasia is a rare spondylo(epi)chondrodysplasia characteristized by delayed skeletal maturation and a constellation of dysplastic features. Although metaphyseal irregularities/cupping have been noted, neither renal phosphate wasting nor rickets have previously been reported.
To evaluate hypophosphatemia and rickets in opsismodysplasia.
Two girls with opsismodysplasia presenting with hypophoshpatemia by 3 years of age.
Routine biochemistries to assess hypophosphatemia and renal phosphate wasting; radiographs (rachitic changes) and DEXA scan (BMD); FGF23 levels, PHEX and FGF23 gene analyses performed (Patient 1).
Both children had hypophosphatemia, decreased TRP, and rickets. Oral phosphorus and calcitriol improved metaphyseal mineralization, yet serum phosphate levels remained relatively low and renal phosphate wasting persisted. PHEX and FGF23 gene analyses were negative, whereas serum FGF23 levels were markedly elevated in Patient 1.
We now demonstrate an association between opsismodysplasia, hypophosphatemic rickets, and FGF23 elevation. Screening phosphorus levels may thus uncover a potentially treatable component of this disease.
迟发性骨发育不全是一种罕见的脊柱（骨骺）软骨发育不良，其特征为骨骼成熟延迟和一系列发育异常特征。虽然已注意到干骺端不规则/杯口状改变，但此前尚未报道有肾性磷酸盐消耗或佝偻病。
评估迟发性骨发育不全中的低磷血症和佝偻病。
两名迟发性骨发育不全女童，3岁时出现低磷血症。
进行常规生化检查以评估低磷血症和肾性磷酸盐消耗；拍摄X线片（佝偻病改变）和进行双能X线吸收法扫描（骨密度）；检测成纤维细胞生长因子23（FGF23）水平，进行磷酸盐调节基因同源物（PHEX）和FGF23基因分析（患者1）。
两名儿童均有低磷血症、肾小管磷重吸收率降低和佝偻病。口服磷和骨化三醇改善了干骺端矿化，但血清磷酸盐水平仍相对较低，肾性磷酸盐消耗持续存在。PHEX和FGF23基因分析为阴性，而患者1的血清FGF23水平显著升高。
我们现在证明了迟发性骨发育不全、低磷性佝偻病和FGF23升高之间存在关联。因此，筛查磷水平可能发现这种疾病中潜在可治疗的成分。
