儿童多囊病:目前的状况和下一个地平线
Melissa A Cadnapaphornchai1, Katherine M Dell2, Charlotte Gimpel3
1Children's Hospital of Philadelphia and the University of Pennsylvania, Philadelphia, USA.
概括
自体主导性和衰退性多囊性病 (ADPKD和ARPKD) 的症状和原因与乳毛功能障碍相似,但可以在任何年龄出现. 本综述指导了护理过渡,并讨论了儿童PKD的治疗目标.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學.
- 遗传学 遗传学 是一个
- 儿科医学 儿科医学
背景情况:
- 自体主导多囊性病 (ADPKD) 和自体递归多囊性病 (ARPKD) 是一种遗传性病.
- 这两种情况都有共同的临床特征,包括囊,高血压和进展性慢性病.
- 致病机制包括乳毛功能障碍和细胞内信号改变.
研究的目的:
- 为了比较和对比ADPKD和ARPKD在病变发生,诊断和管理方面.
- 解决从胎儿生命到婴儿期和青少年到成年期的关键护理过渡点.
- 总结来自成人试验的治疗见解,并讨论对儿科研究的影响.
主要方法:
- 审查关于ADPKD和ARPKD的现有文献.
- 分析诊断方式 (放射学和遗传学).
- 评估当前和新兴的治疗策略.
主要成果:
- ADPKD和ARPKD可以在所有年龄组表现出来,挑战传统的基于年龄的分类.
- 在病变发生,诊断和临床表现方面存在关键差异和重叠.
- 成人治疗试验提供了洞察力,但需要适应儿科患者群体.
结论:
- 认识到ADPKD和ARPKD的广泛年龄范围对于及时诊断和管理至关重要.
- 制定护理转换的指导原则对于改善患者的治疗结果至关重要.
- 需要进一步的研究和以儿童为中心的临床试验,以解决儿童多囊性病的负担.
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