目的 探讨血清成纤维细胞生长因子23（fibroblast growth factor 23，FGF23）在儿童低血磷性佝偻病中的诊断价值。 方法 选择2016年1月—2021年6月在南京医科大学附属儿童医院确诊为低血磷性佝偻病的28例儿童为佝偻病组，纳入2021年6—7月于该院儿童保健科就诊，性别、年龄与佝偻病组匹配的40例健康儿童为健康对照组。比较两组血清FGF23浓度差异，分析血清FGF23与低血磷性佝偻病临床特征、实验室检查结果的相关性，以及血清FGF23对低血磷性佝偻病的诊断价值。 结果 佝偻病组血清FGF23浓度高于健康对照组（P<0.05）。佝偻病组患儿血清FGF23与碱性磷酸酶呈正相关（rs=0.38，P<0.05），与肾小管最大磷吸收/肾小球滤过率呈负相关（rs=-0.64，P<0.05），与年龄、身高Z评分、性别、甲状旁腺素无相关性（P>0.05）。血清FGF23诊断儿童低血磷性佝偻病的灵敏度、特异度、最佳截断值、曲线下面积分别为0.821、0.925、55.77 pg/mL、0.874（P<0.05）。 结论 血清FGF23对儿童低血磷性佝偻病有良好的应用价值，可为临床早期诊断提供理论依据及指导意义。
Abstract
Objective To study the value of serum fibroblast growth factor 23 (FGF23) in the diagnosis of hypophosphatemic rickets in children. Methods A total of 28 children who were diagnosed with hypophosphatemic rickets in Children's Hospital of Nanjing Medical University from January 2016 to June 2021 were included as the rickets group. Forty healthy children, matched for sex and age, who attended the Department of Child Healthcare of the hospital were included as the healthy control group. The serum level of FGF23 was compared between the two groups, and the correlations of the serum FGF23 level with clinical characteristics and laboratory test results were analyzed. The value of serum FGF23 in the diagnosis of hypophosphatemic rickets was assessed. Results The rickets group had a significantly higher serum level of FGF23 than the healthy control group (P<0.05). In the rickets group, the serum FGF23 level was positively correlated with the serum alkaline phosphatase level (rs=0.38, P<0.05) and was negatively correlated with maximum renal tubular phosphorus uptake/glomerular filtration rate (rs=-0.64, P<0.05), while it was not correlated with age, height Z-score, sex, and parathyroid hormone (P>0.05). Serum FGF23 had a sensitivity of 0.821, a specificity of 0.925, an optimal cut-off value of 55.77 pg/mL, and an area under the curve of 0.874 in the diagnosis of hypophosphatemic rickets (P<0.05). Conclusions Serum FGF23 is of valuable in the diagnosis of hypophosphatemic rickets in children, which providing a theoretical basis for early diagnosis of this disease in clinical practice.
关键词
成纤维细胞生长因子23 /
低血磷性佝偻病 /
PHEX基因 /
早期诊断 /
儿童
Key words
Fibroblast growth factor 23 /
Hypophosphatemic rickets /
PHEX gene /
Early diagnosis /
Child
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参考文献
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基金
国家自然科学基金面上项目（81770662）。
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