Follow-up study of Gambian children with rickets-like bone deformities and elevated plasma FGF23: Possible aetiological factors
Follow-up study of Gambian children with rickets-like bone deformities and elevated plasma FGF23: Possible aetiological factors
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DOI：
10.1016/j.bone.2011.10.009
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发表时间：
2012-01-01
期刊：
影响因子：
4.1
通讯作者：
Prentice, Ann
中科院分区：
文献类型：
--
作者：
Braithwaite, Vickie;Jarjou, Landing M. A.;Prentice, Ann
我们以前曾报道过一个病例系列的儿童（n = 46）怀疑缺钙佝偻病谁提出在冈比亚与佝偻病样骨畸形。生化分析排除了维生素D缺乏的病因，但提示Ca-P代谢紊乱，包括低血磷和高循环成纤维细胞生长因子-23（FGF 23）浓度。35名儿童在随访时接受了调查（RFU）。获得骨畸形的临床评估、过夜禁食2 h尿液和血液样本、2天称重饮食记录和24 h尿液收集。来自当地社区（LC）儿童的年龄和季节匹配数据用于计算RFU儿童的标准差评分（SDS）。RFU儿童均无活动性佝偻病的放射学体征。然而，超过一半的人有与佝偻病一致的残余腿部畸形。与LC儿童相比，RFU儿童的膳食Ca摄入量（SDS-Ca = -0.52（0.98）p = 0.04）、膳食Ca/P比（SDS-Ca/P = -0.80（0.82）p = 0.0008）和TmP：GFR（SDS-TmP：GFR = -0.48（0.81）p = 0.04）显著较低，19%的RFU儿童的循环FGF 23浓度升高。此外，血红蛋白和FGF 23之间呈负相关（R-2 = 25.8，p = 0.004）。这项研究表明，冈比亚儿童佝偻病样骨畸形的历史和当地社区的儿童之间的生物化学和饮食概况的差异。这项研究提供了证据支持钙缺乏导致尿磷酸盐消耗和佝偻病的假说，并确定肾小球滤过率和铁状态可能是FGF 23代谢途径的调节剂。(C)2011 Elsevier Inc. All rights reserved.
We have previously reported on a case-series of children (n = 46) with suspected calcium-deficiency rickets who presented in The Gambia with rickets-like bone deformities. Biochemical analyses discounted vitamin D-deficiency as an aetiological factor but indicated a perturbation of Ca-P metabolism involving low plasma phosphate and high circulating fibroblast growth factor-23 (FGF23) concentrations.A follow-up study was conducted 5 years after presentation to investigate possible associated factors and characterise recovery. 35 children were investigated at follow-up (RFU). Clinical assessment of bone deformities, overnight fasted 2 h urine and blood samples, 2-day weighed dietary records and 24 h urine collections were obtained. Age- and season-matched data from children from the local community (LC) were used to calculate standard deviation scores (SDS) for RFU children.None of the RFU children had radiological signs of active rickets. However, over half had residual leg deformities consistent with rickets. Dietary Ca intake (SDS-Ca = -0.52 (0.98) p = 0.04), dietary Ca/P ratio (SDS-Ca/P = -0.80 (0.82) p = 0.0008) and TmP:GFR (SDS-TmP:GFR = -0.48 (0.81) p = 0.04) were significantly lower in RFU children compared with LC children and circulating FGF23 concentration was elevated in 19% of RFU children. Furthermore an inverse relationship was seen between haemoglobin and FGF23 (R-2 = 25.8, p = 0.004).This study has shown differences in biochemical and dietary profiles between Gambian children with a history of rickets-like bone deformities and children from the local community. This study provided evidence in support of the calcium deficiency hypothesis leading to urinary phosphate wasting and rickets and identified glomerular filtration rate and iron status as possible modulators of FGF23 metabolic pathways. (C) 2011 Elsevier Inc. All rights reserved.