成年人身高在X链接低血症患者中数十年来有所改善:一项队列研究
Emese Boros1, Diana-Alexandra Ertl2,3, Jugurtha Berkenou2,3
1Pediatric Endocrinology Unit, Hôpital Universitaire de Bruxelles (HUB), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels 1020, Belgium.
European journal of endocrinology
|October 13, 2023
概括
在法国,X链接低血症 (XLH) 患者的最终身高在几代人之间显著增加. 尽管情况有所改善,但XLH的男性仍然比女性更矮,这表明疾病表型更严重.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 与X相关的低血症 (XLH) 是一种罕见的遗传性疾病,其特征是脏酸盐再吸收受损,导致狂犬病和低血症.
- 关于XLH患者最终身高 (FH) 的自然史数据有限,特别是随着时间的推移趋势.
研究的目的:
- 分析近几十年来法国X链接低血症 (XLH) 患者的最终身高 (FH) 和其演变.
- 为未来的治疗疗效评估建立XLH中FH的基线数据.
主要方法:
- 对一大群法国XLH患者进行了回顾性观察性研究,记录了FH测量.
- 患者被分为三个出生年份组 (1950-1974, 1975-2000, 2001-2006) 的分层,以分析FH的纵向变化.
主要成果:
- 总共分析了398名XLH患者,平均FH标准偏差得分 (SDS) 在三代患者中显著增加 (P < .001).
- 平均FH SDS从最早组的-2.31提高到最近组的-1.34.
- 虽然两性都显示身高有所改善,但XLH的男性相比女性 (-1.70) (P = .002) 的FH SDS (-2.08) 始终较低 (P = .002).
结论:
- 在过去的几十年中,法国XLH患者的最终身高显著增加.
- 尽管情况有所改善,但XLH男性的身高仍然较矮,这表明疾病的表型更为严重.
- 虽然目前的趋势令人鼓舞,但需要进一步的干预措施,因为大多数XLH患者仍然比平均水平矮.
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