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X连锁低磷血症青春期前儿童的身材矮小

Short stature in pre-pubertal children with X-linked hypophosphatemia.

作者信息

Liang Hanting, Qi Wenting, Jin Chenxi, Zhang Cong, Wu Yushuo, Ma Xiaosen, Pang Qianqian, Jiajue Ruizhi, Chi Yue, Liu Wei, Jiang Yan, Wang Ou, Li Mei, Xing Xiaoping, Zhao Jiajun, Xia Weibo

出版信息

Endocr Connect. 2025 May 31;14(6). doi: 10.1530/EC-24-0605. Print 2025 Jun 1.

Abstract

OBJECTIVE

Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH.

METHODS

Based on a randomized clinical trial of high/low doses of active vitamin D with neutral phosphate treatment for XLH children, we recruited 124 pre-pubertal children with XLH, and 46 participants completed the 24-month follow-up. Participants were separated into the short stature (height Z score < -2) and non-short stature groups (height Z score ≥ -2). Height, medication history, biochemical parameters, the Thacher Rickets Severity Score (RSS), and bone age were evaluated.

RESULTS

At baseline, 50.8% of participants were short stature. The height Z score of males (-2.35 ± 1.18) was significantly lower than that of females (-1.86 ± 1.03), P = 0.014. The height Z score had negative correlations with age when enrolled, initial age of medication, and RSS (β: -0.327∼-0.251, P < 0.01), but had a positive correlation with calcium-phosphorus product (β: 0.213, P = 0.015). Compared to the non-short stature group, the proportion of delayed bone age was higher in the short stature group (10.0 vs 42.9%, P < 0.001). At the 24-month follow-up, the median height Z score increased from -1.91 to -1.74 (P = 0.002), whose improvement had no significant differences between groups of male/female, high/low doses of calcitriol, and non-truncating/truncating variants.

CONCLUSION

In pre-pubertal children with XLH, a higher height Z score has associations with females, early initiation of treatment, better bone mineralization, and milder rachitic lesions. Conventional therapy improves their heights, but the efficacy does not depend on sex, active vitamin D dosage, or variant type.

摘要

目的

身材矮小是X连锁低磷血症(XLH)的一个特征。我们旨在探讨影响XLH青春期前儿童身高的因素。

方法

基于一项针对XLH儿童的高/低剂量活性维生素D联合中性磷酸盐治疗的随机临床试验,我们招募了124名青春期前XLH儿童,其中46名参与者完成了24个月的随访。参与者被分为身材矮小组(身高Z评分<-2)和非身材矮小组(身高Z评分≥-2)。评估了身高、用药史、生化参数、撒切尔佝偻病严重程度评分(RSS)和骨龄。

结果

基线时,50.8%的参与者身材矮小。男性的身高Z评分(-2.35±1.18)显著低于女性(-1.86±1.03),P = 0.014。身高Z评分与入组时的年龄、初始用药年龄和RSS呈负相关(β:-0.327∼-0.251,P<0.01),但与钙磷乘积呈正相关(β:0.213,P = 0.015)。与非身材矮小组相比,身材矮小组骨龄延迟的比例更高(10.0%对42.9%,P<0.001)。在24个月的随访中,身高Z评分中位数从-1.91增加到-1.74(P = 0.002),其改善在男性/女性、高/低剂量骨化三醇以及非截断/截断变异组之间无显著差异。

结论

在青春期前XLH儿童中,较高的身高Z评分与女性、早期开始治疗、更好的骨矿化以及较轻的佝偻病病变有关。传统疗法可改善他们的身高,但疗效不取决于性别、活性维生素D剂量或变异类型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/734f/12131737/98aab0a5950f/EC-24-0605fig1.jpg

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