经口内镜下肌切开术治疗三 A 综合征相关贲门失弛缓症：三例报告
Triple A syndrome-related achalasia treated by per-oral endoscopic myotomy: Three case reports.
作者信息
Liu Feng-Chen, Feng Yun-Lu, Yang Ai-Ming, Guo Tao
机构信息
Department of Gastroenterology, Peking Union Medical College Hospital, Beijing 100730, China.
出版信息
World J Clin Cases. 2022 Jul 6;10(19):6529-6535. doi: 10.12998/wjcc.v10.i19.6529.
BACKGROUND
Triple A syndrome is a rare autosomal recessive disease characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima and achalasia. In the last 5 years, per-oral endoscopic myotomy (POEM) has proved highly successful in treating primary achalasia over the long term, but its long-term performance has not been certified by achalasia related to Triple A syndrome.
CASE SUMMARY
Triple A syndrome is a rare autosomal recessive disease characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima and achalasia. In the past 5 years, POEM has proved highly successful in treating primary achalasia over the long term, but its long-term performance has not been certified by achalasia related to Triple A syndrome. Eckardt scores and esophageal manometry improved significantly during the 2 years following POEM; however, grade-A reflux esophagitis recurred in 66.7% of patients in 12 mo post-procedure.
CONCLUSION
Based on these case studies, POEM is efficacious and safe for a treatment of achalasia associated with Triple A syndrome.
背景
三 A 综合征是一种罕见的常染色体隐性疾病，其特征为促肾上腺皮质激素抵抗性肾上腺功能不全、无泪症和贲门失弛缓症。在过去 5 年中，经口内镜下肌切开术（POEM）已被证明在长期治疗原发性贲门失弛缓症方面非常成功，但其长期疗效尚未在与三 A 综合征相关的贲门失弛缓症中得到证实。
病例摘要
三 A 综合征是一种罕见的常染色体隐性疾病，其特征为促肾上腺皮质激素抵抗性肾上腺功能不全、无泪症和贲门失弛缓症。在过去 5 年中，POEM 已被证明在长期治疗原发性贲门失弛缓症方面非常成功，但其长期疗效尚未在与三 A 综合征相关的贲门失弛缓症中得到证实。在 POEM 术后 2 年期间，埃卡德特评分和食管测压显著改善；然而，66.7%的患者在术后 12 个月出现了 A 级反流性食管炎复发。
结论
基于这些病例研究，POEM 治疗与三 A 综合征相关的贲门失弛缓症是有效且安全的。
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