桑贾德-萨卡蒂综合征中的超:对脏参与指标的回顾性评估
Vina Tresa1,2, Saima Zeb Shaikh3, Saima Mehmood4
1Department of Pediatric Nephrology, Sultan Qaboos University Hospital, Muscat, OMN.
Cureus
|March 2, 2026
概括
患有桑贾德-萨卡蒂综合征 (SSS) 的儿童经常经历脏异常,如高热症和脏结症. 在这些患者中,定期对脏进行监测对于管理潜在的结石和进展性功能障碍至关重要.
科学领域:
- 儿科脏病学 儿科脏病学
- 罕见的遗传疾病 罕见的遗传疾病
- 泌尿器科 泌尿器科 泌尿器科 泌尿器科
背景情况:
- 桑贾德-萨卡蒂综合征 (SSS) 是一种罕见的遗传疾病,可能涉及多个器官.
- 脏和尿路异常是SSS患者的疑似并发症.
- 早期发现脏问题对于长期患者的治疗结果至关重要.
研究的目的:
- 研究患有桑贾德-萨卡蒂综合征的儿科患者脏和尿路异常的频谱和患病率.
- 描述SSS中脏参与的自然史.
- 强调脏监测在SSS管理中的重要性.
主要方法:
- 追溯性,描述性,基于医院的研究.
- 包括确诊的桑贾德-萨卡蒂综合征的儿科患者 (15岁以下).
- 从2006年1月到2020年12月在阿曼苏丹卡布斯大学医院收集的数据.
主要成果:
- 分析了15名患有SSS的患者.
- 所有患者 (100%) 呈现高性尿,通常在5岁之前发病.
- 结石发生在66.7%,结石发生在13.3%,慢性病发生在60%的患者中.
结论:
- 桑贾德-萨卡蒂综合征与显著的脏表现有关,包括高血症和骨.
- 进展性功能障碍和结石形成是潜在的并发症.
- 定期脏监测对于早期检测和治疗SSS中脏疾病至关重要.
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