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卡布基综合征患者的长期结局
Seongjae Han1, Hyeonju Lee1, Peong Gang Park2
1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.
Pediatric nephrology (Berlin, Germany)
|May 28, 2025
概括
卡布基综合征 (KS) 患者经常出现脏和尿路问题,其中三分之一会发展为慢性脏病 (CKD). 早期查和监测对于在KS中管理这些脏表现至关重要.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 卡布基综合征 (KS) 是一种罕见的遗传疾病,具有多种临床表现.
- 脏和尿路异常是KS的已知的并发症.
- 了解KS中脏参与的频谱和进展对于患者护理至关重要.
研究的目的:
- 评估KS患者的临床特征和脏/尿道表现.
- 为了确定慢性病 (CKD) 在KS中的患病率和进展.
- 在这个人群中确定CKD进展的预测因素.
主要方法:
- 来自单一三级中心的KS患者的回顾性队列研究 (2003-2023年).
- 对临床数据,基因突变 (KMT2D,KDM6A) 和结局的分析.
- 无CKD生存率分析,以评估进展率.
主要成果:
- 分析了65名KS患者;KMT2D突变是最常见的.
- 脏和尿路的先天性异常 (CAKUT) 影响了33.9%; 11.3%发生了结石/结石.
- 33.9%的患者进展为CKD,主要原因是CAKUT和心综合征;年龄较小和双侧异常预测进展更快.
结论:
- 显著的比例的KS患者经历脏和尿路异常.
- 大约三分之一的KS患者患有CKD,需要主动管理.
- 定期功能查和随访对于KS患者至关重要.
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