胎儿囊性病和产后随访 - - 一个中心的经验
Lorena Botero-Calderon1, Anne Lawrence2, Natalie O'Toole3
1Division of Nephrology, Children's National Hospital, Washington, DC, United States.
Frontiers in pediatrics
|August 28, 2023
概括
产前超声检查发现脏膨胀可能表明各种严重的疾病,包括脏纤毛病. 对受影响婴儿的过渡规划需要改进,大多数纤维病例接受产后科护理.
科学领域:
- 儿科脏病学 儿科脏病学
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
背景情况:
- 产前超声检测大,回声或囊性脏表明各种疾病,如脏纤维病和脏和泌尿道 (CAKUT) 的先天性异常.
- 对于这些婴儿,从子宫内检测到产后脏病管理的系统过渡计划尚未建立.
研究的目的:
- 评估婴儿在子宫内双边囊性病的临床表现.
- 评估这些婴儿的过渡规划过程.
主要方法:
- 对72例双边囊性病怀孕的回顾性观察性研究 (2012-2022年).
- 对13名确诊患有毛病的婴儿的临床和成像数据,遗传结果和产后随访的分析.
- 在不同的诊断中比较介绍和过渡规划.
主要成果:
- 在纤维病队列 (n=17) 中,自体逆性多囊性疾病 (ARPKD) 是最常见的 (n=4),其次是巴德特-比德综合征 (BBS,n=3) 和其他.
- 与此相关的异常包括无水 (ARPKD),多爪 (BBS,MKS),心脏缺陷 (ARPKD,MKS,BBS) 和中枢神经系统异常 (ARPKD,MKS,BBS).
- 过渡规划文件不完整;然而,有85% (11/13) 的患有毛病的婴儿有产后脏病管理计划.
结论:
- 产前超声波检测发现大,回声性脏,因此怀疑脏纤维病和CAKUT.
- 标准化过渡指导方针和多中心合作对于患病婴儿的综合性脏病管理至关重要.
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