经口内窥镜下肌切开术治疗小儿三甲综合征3例报告。

IF 4 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY
Ali Cagatay Bozkına, Abdullah Murat Buyruk
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引用次数: 0

摘要

aaa (Allgrove)综合征是一种罕见的常染色体隐性遗传病,其特征为肾上腺功能不全、先天性红斑和失弛缓症。尽管经口内窥镜下肌切开术(POEM)越来越多地用于儿童贲门失弛缓症,但其在aaa相关病例中的作用仍不明确。我们报告了三例遗传确诊的患有aaa综合征和难治性贲门失弛缓症的儿童患者(11-16岁),他们在充气扩张和/或肉毒杆菌毒素注射失败后接受了POEM。评估临床特征、手术细节和短期结果。所有3例患者均出现长期吞咽困难、反流和呕吐,入院时Eckardt评分为12,体重指数为15.6至17.4 kg/m²。后路POEM采用5点钟入路,粘膜下隧道长度为10-25 cm,食管肌切开术长度为6-18 cm,胃肌切开术长度为3 cm。手术持续40-65分钟,无术中并发症。24小时内恢复口服,30-43小时内全部出院。随访2-4个月,所有患者均无症状,Eckardt评分为0。对于常规治疗失败的aaa相关性失弛缓症患儿,POEM似乎是一种安全有效的治疗选择。我们的研究是迄今为止在这一人群中报道的最大的研究,支持将POEM作为一种持久的微创治疗方法。需要长期随访和多中心经验来证实这些发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Peroral endoscopic myotomy in pediatric triple a syndrome: report of three cases.

Triple A (Allgrove) syndrome is a rare autosomal recessive disorder characterized by adrenal insufficiency, alacrima, and achalasia. Although peroral endoscopic myotomy (POEM) is increasingly used for pediatric achalasia, its role in Triple A-related cases remains poorly defined. We report three genetically confirmed pediatric patients (aged 11-16 years) with Triple A syndrome and refractory achalasia who underwent POEM following unsuccessful pneumatic dilatation and/or botulinum toxin injection. Clinical characteristics, procedural details, and short-term outcomes were evaluated. All three patients presented with long-standing dysphagia, regurgitation, and vomiting, with Eckardt scores of 12 at admission and body mass indices ranging from 15.6 to 17.4 kg/m². Posterior POEM was performed using a 5 o'clock approach, with submucosal tunnel lengths of 10-25 cm and myotomy lengths of 6-18 cm esophageal plus 3 cm gastric. Procedures lasted 40-65 minutes, with no intraoperative complications. Oral intake was resumed within 24 hours and all patients were discharged within 30-43 hours. At 2-4 months follow-up, all remained asymptomatic with Eckardt scores of 0. POEM appears to be a safe and effective therapeutic option for Triple A-related achalasia in pediatric patients who fail conventional therapies. Our series, the largest reported to date in this population, supports the consideration of POEM as a durable minimally invasive treatment. Longer-term follow-up and multicenter experience are needed to confirm these findings.

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来源期刊
CiteScore
2.00
自引率
25.00%
发文量
400
审稿时长
6-12 weeks
期刊介绍: La Revista Española de Enfermedades Digestivas, Órgano Oficial de la Sociedad Española de Patología Digestiva (SEPD), Sociedad Española de Endoscopia Digestiva (SEED) y Asociación Española de Ecografía Digestiva (AEED), publica artículos originales, editoriales, revisiones, casos clínicos, cartas al director, imágenes en patología digestiva, y otros artículos especiales sobre todos los aspectos relativos a las enfermedades digestivas.
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