患有 COL4A1 变种的患者腹腔镜胃口术相关的潜在风险:两个病例报告
Koichi Deguchi1, Ryuta Saka1,2, Marie Todo1
1Department of Pediatric Surgery, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Asian journal of endoscopic surgery
|December 7, 2023
概括
致病性COL4A1变体导致大脑,眼睛,脏和肌肉疾病. 由于潜在的手术风险,对于接受LAPEG等手术的患者来说,仔细的术后管理至关重要.
科学领域:
- 遗传学和分子生物学
- 神经学 神经学
- 血管生物学 血管生物学
背景情况:
- 致病性COL4A1变体与脑和脑分裂有关,影响大约20%的患者.
- 这种变异导致全身微血管病变,影响大脑,眼睛,脏和肌肉系统.
研究的目的:
- 报告COL4A1变异患者经过胃口切除术的手术结果和术后管理.
- 为了突出这一患者群体中与手术干预相关的潜在并发症.
主要方法:
- 两名女性患者 (7-8岁) 的病例报告,患有COL4A1变体和口腔失足症.
- laparoscopy-assisted percutaneous endoscopic gastrostomy (LAPEG) 程序用于进行营养支持. 这是一个非常简单的过程.
- 详细监测手术内和手术后的事件.
主要成果:
- 在这两名患者中,LAPEG治疗成功完成,没有出现手术后的并发症.
- 一名患者经历了手术后的气泡出血,需要机械通风.
- 这两名患者都有潜在的脑,,脑出血/心脏病发作和耐火性.
结论:
- laparoscopy 辅助的皮肤内镜胃口术可以是一个可行的选择,用于管理患有 COL4A1 变体的患者的消化不良.
- 由于严重并发症的风险,如气囊出血等,警的术后护理至关重要.
- 需要进一步的研究,以充分了解和减轻这一群体的手术风险.
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