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18 三体综合征患者行食管闭锁根治术对长期预后的影响。

Impact of definitive surgery for esophageal atresia on long-term outcomes in patients with trisomy 18.

机构信息

Department of Neonatology, Hyogo Prefectural Kobe Children's Hospital Perinatal Center, Kobe, Hyogo, Japan.

Department of Pediatric Surgery, Hyogo Prefectural Kobe Children's Hospital, Kobe, Hyogo, Japan.

出版信息

Am J Med Genet A. 2024 Nov;194(11):e63792. doi: 10.1002/ajmg.a.63792. Epub 2024 Jun 17.

Abstract

This study investigates the long-term outcomes of palliative and definitive surgeries for esophageal atresia (EA) in patients with trisomy 18 syndrome. A retrospective study included 25 cases undergoing EA surgery at our center between 2008 and 2022. The Palliative group (n = 16) comprised 13 cases with esophageal banding and 3 with tracheoesophageal fistula (TEF) division. The Definitive group (n = 9) included 5 cases with primary repair and 4 with staged repair following TEF division. The patient characteristics exhibited no significant differences between the groups. In the Definitive group, 56% (5/9) were successfully weaned off mechanical ventilation, compared with none in the Palliative group (p = 0.002). Survival-to-discharge rates were 31% (5/16) in the Palliative group and 67% (6/9) in the Definitive group. Home ventilator management was required for all 5 cases that required ventilation in the Palliative group, whereas only 17% (1/6) in the Definitive group needed it. The Palliative group also required continuous oral suction for persistent saliva removal, with two cases undergoing laryngotracheal separation. Overall, definitive surgery for EA in patients with trisomy 18 syndrome may provide enhanced respiratory stability, thereby improving the survival-to-discharge rate and overall quality of life for patients and their families.

摘要

本研究调查了 18 三体综合征患者行姑息性和确定性食管闭锁(EA)手术的长期结果。回顾性研究纳入了 2008 年至 2022 年在我中心行 EA 手术的 25 例患者。姑息性手术组(n=16)包括 13 例食管环扎术和 3 例气管食管瘘(TEF)切开术。确定性手术组(n=9)包括 5 例一期修复和 4 例 TEF 切开后分期修复。两组患者的特征无显著差异。在确定性手术组中,56%(5/9)的患者成功脱离机械通气,而姑息性手术组无 1 例(p=0.002)。姑息性手术组的出院存活率为 31%(5/16),确定性手术组为 67%(6/9)。姑息性手术组中需要通气的 5 例均需家庭呼吸机管理,而确定性手术组仅 17%(1/6)需要。姑息性手术组还需要持续口腔抽吸以清除持续的唾液,其中 2 例需要行喉气管分离术。总体而言,18 三体综合征患者行 EA 确定性手术可能提供更好的呼吸稳定性,从而提高出院存活率和患者及其家属的整体生活质量。

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