大囊-微结肠-肠道低透性综合征:不要忘记膀
Chiara Pellegrino1, Giulia Barone2,3, Maria Luisa Capitanucci2
1Division of Neuro-Urology, Bambino Gesu' Children's Hospital, IRCCS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy. chiara.pellegrino@opbg.net.
Pediatric surgery international
|May 7, 2024
概括
大囊-微结肠-肠道低活性综合征 (MMIHS) 需要进行早期泌尿学评估. 在MMIHS患者中,迅速的膀管理可以保持功能并改善尿路症状.
科学领域:
- 儿科泌尿外科 儿科泌尿外科
- 胃肠病学 胃肠病学
- 医学遗传学 医学遗传学
背景情况:
- 大囊-小结肠-肠下综合征 (MMIHS) 是一种罕见的先天性疾病.
- 现有的文献主要集中在胃肠道表现,尿道方面的数据有限.
- 泌尿器科并发症可能会对患者的治疗结果产生重大影响.
研究的目的:
- 突出诊断为MMIHS的患者的泌尿器科问题.
- 描述MMIHS中尿路症状和管理策略的范围.
- 强调早期儿科泌尿器科咨询的重要性.
主要方法:
- 在10年的时间里,对MMIHS患者的临床数据进行了回顾性分析.
- 包括已确认基因诊断 (ACTG2或MYH11突变) 的患者.
- 综合性泌尿学评估和膀管理协议的实施.
主要成果:
- 评估了6名患有MMIHS的患者 (3名男性,3名女性).
- 常见的泌尿器科问题包括尿路滞留,感染,急性损伤和口腔.
- 膀管理,包括干净的间歇性导管治疗,导致尿路感染改善,上部通道扩张和口腔.
- 所有患者在最后一次随访时都保持了良好的功能.
结论:
- 患有MMIHS的患者需要早期的多学科评估,包括儿科泌尿病学.
- 积极的泌尿学评估和管理对于保持功能至关重要.
- 及时干预可以减轻严重的尿道并发症,并改善长期的结果.
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