Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.
Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.
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153例中国X连锁低磷血症患者的临床和遗传特征
DOI：
10.3389/fcell.2021.617738
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发表时间：
2021
影响因子：
5.5
通讯作者：
Yue H
中科院分区：
文献类型：
--
作者：
Lin X;Li S;Zhang Z;Yue H
X连锁低磷酸盐血症（XLH）是由磷酸盐调节内肽酶同源物X连锁（PHEX）基因的失活突变引起的，导致循环中完整成纤维细胞生长因子-23（iFGF-23）过量和肾磷酸盐浪费。在本研究中，我们回顾性分析了153例中国XLH患者的临床和分子特征，其中87例为家族性，66例为散发性。共有153名XLH患者出现体征或症状，中位年龄为18.0个月（范围，9.0个月-26.0岁）。下肢畸形是最常见的临床表现，占79.1%（121/153）。生化筛查显示XLH患者血清iFGF 23水平升高，变化范围为14.39 - 730.70 pg/ml。儿童和成人患者的血清iFGF 23的中值分别为94.87 pg/ml（四分位数范围：74.27-151.86 pg/ml）和72.82 pg/ml（四分位数范围：39.42-136.00 pg/ml）。虽然在这两组之间没有观察到循环iFGF 23水平的差异（P = 0.062），但儿科组中具有高水平循环iFGF 23（>42.2 pg/ml）的患者比例高于成人组（P = 0.026）。在153名患者中发现了88种不同的突变，其中27种（30.7%）是新的。iFGF 23水平和疾病的严重程度与截短和非截短突变或N-末端和C-末端PHEX突变不显著相关。本研究全面描述了XLH患者的临床特征、iFGF 23循环水平和基因突变特征，进一步丰富了疾病的基因型谱。研究结果显示，在XLH患者中，循环iFGF 23水平与年龄或疾病严重程度没有明显的相关性。
X-linked hypophosphatemia (XLH) is caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, resulting in an excess of circulating intact fibroblast growth factor-23 (iFGF-23) and a waste of renal phosphate. In the present study, we retrospectively reviewed the clinical and molecular features of 153 Chinese patients, representing 87 familial and 66 sporadic cases with XLH. A total of 153 patients with XLH presented with signs or symptoms at a median age of 18.0 months (range, 9.0 months–26.0 years). Lower-limb deformity was the most frequent clinical manifestation, accounting for 79.1% (121/153). Biochemical screening showed increased serum levels of iFGF23 in patients with XLH, with a wide variation ranging from 14.39 to 730.70 pg/ml. Median values of serum iFGF23 in pediatric and adult patients were 94.87 pg/ml (interquartile range: 74.27–151.86 pg/ml) and 72.82 pg/ml (interquartile range: 39.42–136.00 pg/ml), respectively. Although no difference in circulating iFGF23 levels between these two groups was observed (P = 0.062), the proportion of patients with high levels of circulating iFGF23 (>42.2 pg/ml) was greater in the pediatric group than in the adult group (P = 0.026). Eighty-eight different mutations in 153 patients were identified, with 27 (30.7%) being novel. iFGF23 levels and severity of the disease did not correlate significantly with truncating and non-truncating mutations or N-terminal and C-terminal PHEX mutations. This study provides a comprehensive description of the clinical profiles, circulating levels of iFGF23 and gene mutation features of patients with XLH, further enriching the genotypic spectrum of the diseases. The findings show no evident correlation of circulating iFGF23 levels with the age or disease severity in patients with XLH.
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