儿童和成年人X链接低酸血症的甲和功能:来自大型纵向研究的基线结果
Anthony A Portale1, Leanne Ward2, Kathryn Dahir3
1Division of Pediatric Nephrology, University of California San Francisco Benioff Children's Hospital, San Francisco, CA 94158, United States.
瘤炎会影响超过三分之一的成年人和近四分之一的儿童,患有X-链接低血症 (XLH). 需要进一步的研究,以了解其预测因素和长期影响在XLH管理.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學.
- 儿科 儿科 儿科
- 遗传学 遗传学是一种遗传学.
背景情况:
- 与X相关的低血症 (XLH) 是一种罕见的遗传性疾病.
- 常规治疗XLH包括口服酸盐和活性维生素D.
- 甲是已知的并发症,但其与XLH和功能之间的关系尚不清楚.
研究的目的:
- 为了调查XLH患者中骨瘤的患病率.
- 探索甲,功能 (eGFR) 和生化标志物之间的关联.
- 描述XLH患者的患者和疾病特征,包括患有和没有瘤瘤的患者.
主要方法:
- 对196名患有XLH的儿童和318名成人的横截面分析.
- 脏超声波和估计的膜过率 (eGFR) 在基线时被评估.
- 这些患者来自burosumab临床试验和XLH疾病监测计划.
主要成果:
- 在22%的儿童和38%的成年人中存在瘤瘤.
- 在儿童中,骨瘤与降低的EGFR和较低的TmP/GFR和1,25(OH) 2D水平有关.
- 患有骨瘤的成年人血清和1,25(OH) 2D水平较低.
结论:
- 瘤瘤是儿童和成人XLH患者的常见发现.
- 需要进行进一步的研究,以确定骨瘤的预测因素和长期后果.
- 对于管理XLH而言,对瘤瘤的持续监测至关重要.
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