• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

先天性巨结肠症的治疗方法:临床病例。

Therapeutic approaches in Hirschsprung's disease: clinical cases.

机构信息

Department of Pediatric Surgery, Grigore Alexandrescu Emergency Clinical Hospital for Children, Bucharest, Romania.

Department of Plastic and Reconstructive Surgery, Pediatric Surgery, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

出版信息

J Med Life. 2024 Jun;17(6):644-648. doi: 10.25122/jml-2024-0307.

DOI:10.25122/jml-2024-0307
PMID:39296430
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11407488/
Abstract

Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the colon, resulting in impaired peristalsis and functional intestinal obstruction. This condition affects approximately 1 in 5,000 newborns, with a higher prevalence in boys. Although first identified in the 17 century, its connection to chronic constipation was clearly established by Harald Hirschsprung in 1886. Contemporary treatment strategies emphasize early diagnosis, surgical excision of the aganglionic segment, and specialized postoperative care to restore normal colonic function and improve the quality of life for affected individuals. This article reviews current therapeutic strategies, highlighting advanced surgical techniques, diagnostic methods, and postoperative management. Two clinical cases illustrate the impact and treatment of the disease. The first case involves a 5-month-old male with severe malnutrition, dehydration, and acute enterocolitis, who underwent a right-side colostomy and later a Duhamel-type extramucosal sphincter-rectal-myotomy, showing favorable progress. The second case is a 1.5-year-old patient with a history of colostomy and ileostomy, requiring further surgery. Histopathological examinations in both cases revealed the absence of ganglion cells, confirming the diagnosis of Hirschsprung's disease.

摘要

先天性巨结肠是一种先天性疾病,其特征是结肠的肌间和黏膜下神经丛中没有神经节细胞,导致蠕动功能受损和功能性肠梗阻。这种情况在大约每 5000 个新生儿中就会发生 1 例,男孩的发病率更高。尽管它在 17 世纪就首次被发现,但直到 1886 年 Harald Hirschsprung 才明确其与慢性便秘的关联。目前的治疗策略强调早期诊断、无神经节细胞段的外科切除以及专门的术后护理,以恢复正常的结肠功能并提高受影响个体的生活质量。本文回顾了当前的治疗策略,重点介绍了先进的手术技术、诊断方法和术后管理。两个临床病例说明了该疾病的影响和治疗方法。第一个病例是一名 5 个月大的男性,患有严重的营养不良、脱水和急性肠炎,接受了右侧结肠造口术,后来又进行了 Duhamel 型黏膜外括约肌直肠肌切开术,病情好转。第二个病例是一名 1.5 岁的患者,曾接受过结肠造口术和回肠造口术,需要进一步手术。两个病例的组织病理学检查均显示没有神经节细胞,从而确诊为先天性巨结肠。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/18826f1cbd2b/JMedLife-17-644-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/14f46a2104e9/JMedLife-17-644-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/f9d6572aa651/JMedLife-17-644-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/74ff742d5b1b/JMedLife-17-644-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/76e1224067ef/JMedLife-17-644-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/93f647b2a543/JMedLife-17-644-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/c1738ac0e1de/JMedLife-17-644-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/18826f1cbd2b/JMedLife-17-644-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/14f46a2104e9/JMedLife-17-644-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/f9d6572aa651/JMedLife-17-644-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/74ff742d5b1b/JMedLife-17-644-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/76e1224067ef/JMedLife-17-644-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/93f647b2a543/JMedLife-17-644-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/c1738ac0e1de/JMedLife-17-644-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc2/11407488/18826f1cbd2b/JMedLife-17-644-g007.jpg

相似文献

1
Therapeutic approaches in Hirschsprung's disease: clinical cases.先天性巨结肠症的治疗方法:临床病例。
J Med Life. 2024 Jun;17(6):644-648. doi: 10.25122/jml-2024-0307.
2
Per rectal endoscopic myotomy for the treatment of adult Hirschsprung's disease: First human case (with video).经直肠内镜肌切开术治疗成人先天性巨结肠病:首例人体病例(附视频)
Dig Endosc. 2016 Sep;28(6):680-4. doi: 10.1111/den.12689. Epub 2016 Jul 29.
3
Clinical features' diagnostics and treatment of Hirschsprung's disease in adults.成人先天性巨结肠病的临床特征、诊断及治疗。
Colorectal Dis. 2010 Dec;12(12):1242-8. doi: 10.1111/j.1463-1318.2009.02031.x.
4
Congenital aganglionic megacolon in Nigerian adults: two case reports and review of the literature.尼日利亚成年人先天性无神经节巨结肠:两例病例报告及文献综述
Niger J Clin Pract. 2011 Apr-Jun;14(2):249-52. doi: 10.4103/1119-3077.84032.
5
Hirschsprung's disease in adults: report of a case and review of the literature.成人先天性巨结肠症:一例报告并文献复习
J Nippon Med Sch. 2005 Apr;72(2):113-20. doi: 10.1272/jnms.72.113.
6
Acquired aganglionosis: a rare occurrence following pull-through procedures for Hirschsprung's disease.获得性神经节缺失症:一种在先天性巨结肠症拖出术后罕见的情况。
J Pediatr Surg. 1990 Jan;25(1):104-8; discussion 108-9. doi: 10.1016/s0022-3468(05)80173-3.
7
Total colonic manometry as a guide for surgical management of functional colonic obstruction: Preliminary results.全结肠测压作为功能性结肠梗阻手术治疗的指导:初步结果
J Pediatr Surg. 2001 Dec;36(12):1757-63. doi: 10.1053/jpsu.2001.28815.
8
Hirschsprung's disease associated with alopecia universalis congenita: a case report.先天性全秃伴先天性巨结肠:一例报告
J Med Case Rep. 2016 Sep 15;10(1):250. doi: 10.1186/s13256-016-1035-z.
9
Hirschsprung's disease: diagnosis and management.先天性巨结肠症:诊断与治疗
Am Fam Physician. 2006 Oct 15;74(8):1319-22.
10
Hirschsprung's disease in the newborn.新生儿先天性巨结肠症
J Pediatr Surg. 1984 Aug;19(4):370-4. doi: 10.1016/s0022-3468(84)80255-9.

本文引用的文献

1
Hirschsprung Disease - Current Diagnosis and Management.先天性巨结肠症——当前的诊断与管理。
Indian J Pediatr. 2017 Aug;84(8):618-623. doi: 10.1007/s12098-017-2371-8. Epub 2017 Jun 10.
2
Hirschsprung's disease: A bridge for science and surgery.先天性巨结肠症:科学与外科手术之间的桥梁
J Pediatr Surg. 2016 Jan;51(1):18-22. doi: 10.1016/j.jpedsurg.2015.10.021. Epub 2015 Oct 21.
3
Contrast enema findings in patients presenting with poor functional outcome after primary repair for Hirschsprung disease.先天性巨结肠症初次手术后功能恢复不良患者的对比灌肠检查结果。
Pediatr Radiol. 2012 Sep;42(9):1099-106. doi: 10.1007/s00247-012-2394-2. Epub 2012 Apr 19.
4
Total colonic aganglionosis with skip lesions: report of a rare case and management.全结肠无神经节细胞症伴节段性缺失:罕见病例报告及处理。
J Pediatr Surg. 2012 Mar;47(3):581-4. doi: 10.1016/j.jpedsurg.2011.11.067.
5
Transanal endorectal pull-through for Hirschsprung disease: technique, controversies, pearls, pitfalls, and an organized approach to the management of postoperative obstructive symptoms.经肛门直肠内拖出术治疗先天性巨结肠:技术、争议、要点、陷阱及术后梗阻症状的系统性处理方法
Semin Pediatr Surg. 2010 May;19(2):96-106. doi: 10.1053/j.sempedsurg.2009.11.016.
6
Hirschsprung disease, associated syndromes and genetics: a review.先天性巨结肠、相关综合征与遗传学:综述
J Med Genet. 2008 Jan;45(1):1-14. doi: 10.1136/jmg.2007.053959. Epub 2007 Oct 26.
7
Hirschsprung's disease in a young adult: report of a case and review of the literature.青年成人先天性巨结肠症:一例报告并文献复习
Ann Diagn Pathol. 2006 Dec;10(6):347-51. doi: 10.1016/j.anndiagpath.2006.03.017.
8
One-stage transanal Soave pullthrough for Hirschsprung disease: a multicenter experience with 141 children.先天性巨结肠的一期经肛门Soave拖出术:141例儿童的多中心经验
Ann Surg. 2003 Oct;238(4):569-83; discussion 583-5. doi: 10.1097/01.sla.0000089854.00436.cd.
9
A prospective study of botulinum toxin for internal anal sphincter hypertonicity in children with Hirschsprung's disease.肉毒杆菌毒素治疗先天性巨结肠患儿肛门内括约肌张力亢进的前瞻性研究。
J Pediatr Surg. 2000 Dec;35(12):1733-6. doi: 10.1053/jpsu.2000.19234.
10
Anorectal manometry during the neonatal period: its specificity in the diagnosis of Hirschsprung's disease.新生儿期的肛门直肠测压法:其在先天性巨结肠症诊断中的特异性
Eur J Pediatr Surg. 1999 Apr;9(2):101-3. doi: 10.1055/s-2008-1072221.