大囊微结肠肠道低活性综合征 (MMIHS):诊断和管理方面的挑战
Keerthika Murali1, Anjan Kumar Dhua2
1Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India keerthi.ka_m@yahoo.com.
BMJ case reports
|April 16, 2024
概括
大囊微结肠肠下垂心综合征 (MMIHS) 是一种罕见的先天性疾病. 在报告的一例病例中,ACTG2基因突变被确定为病因,突出显示了患病婴儿早期诊断的必要性.
科学领域:
- 遗传学 遗传学 是一个
- 儿科手术 儿科手术
- 新生儿科学 新生儿科学
背景情况:
- 大囊微结肠肠道透综合征 (MMIHS) 是一种罕见的先天性功能性肠道阻塞.
- 它的特点是膀膨胀 (大囊),小结肠 (微结肠) 和肠道运动性差 (hypoperistalsis).
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