在希尔施普朗格病的延迟诊断
Alessio Pini Prato1, M Erculiani2, M L Novi2
1Umberto Bosio Center for Digestive Diseases, The Children Hospital, AOU SS Antonio e Biagio e Cesare Arrigo, Spalto Marengo, 46, 15121, Alessandria, Italy. apini@ospedale.al.it.
Pediatric surgery international
|March 4, 2024
概括
迟迟诊断赫施普朗格病,通常是由于轻微的症状,影响了显著的百分比的患者. 尽管有这种延迟,总体结果仍然与及时诊断的结果相似,强调了对便秘的早期调查.
科学领域:
- 儿科手术 儿科手术
- 胃肠病学 胃肠病学
- 医学诊断 医学诊断 医学诊断
背景情况:
- 赫施普朗格病的诊断通常是迅速的,延迟诊断的定义是12个月后的年龄.
- 延迟诊断可能与较差的患者结果有关.
- 这项研究调查了延迟诊断赫施普朗格病的患者的特征.
研究的目的:
- 为了确定患者的关键特征经历延迟诊断的希尔施普朗格病.
- 将这些特征与立即诊断的患者的特征进行比较.
主要方法:
- 追溯招募45名被诊断晚期赫施普朗格病的患者 (2017年1月至2023年7月).
- 评估人口统计数据,表型,基因型,手术并发症和结果.
- 与文献进行比较,并立即诊断出一个队列.
主要成果:
- 诊断时的平均年龄为41个月 (范围为17个月-58岁).
- 58%的延迟诊断患者有正常的传导,明显高于非延迟病例 (p=0.0140).
- 与非延迟病例相比,在其他变量 (异常,肠球炎,并发症,功能结果) 中没有发现统计学上显著的差异.
结论:
- 在新生儿中,Hirschsprung病例的很大一部分是错过的,通常是由于轻微的症状.
- 在延迟诊断组和非延迟诊断组之间,患者的整体结果没有显著差异.
- 在便秘儿童中彻底调查问题和早期直肠活检对于预防误诊至关重要.
相关概念视频
Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
331
Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
331
Peptic Ulcer Disease III: Clinical Manifestations and Diagnostic Studies
117
Peptic ulcer disease (PUD) presents with diverse symptoms depending on the location and severity of the ulcer. Clinical manifestations of peptic ulcer include dull pain and a burning sensation in the mid-epigastric region.
Few clinical manifestations differentiate gastric ulcers from duodenal ulcers. Distinctions in the location, timing, and pain relief are crucial for healthcare providers in differentiating between gastric and duodenal ulcers during clinical assessments.
Few clinical manifestations differentiate gastric ulcers from duodenal ulcers. Distinctions in the location, timing, and pain relief are crucial for healthcare providers in differentiating between gastric and duodenal ulcers during clinical assessments.
117
Lower GI Series: Barium Enema
268
A Barium Enema, or a lower GI series, is a specialized radiographic examination designed to visualize the lower gastrointestinal tract, specifically the colon and rectum. This procedure is instrumental in diagnosing various conditions such as colorectal cancer, polyps, diverticulosis, and inflammatory bowel disease.
Procedure Details
The examination begins by inserting a lubricated rectal tube into the patient's rectum to administer a radiopaque barium solution. The barium flow is carefully...
Procedure Details
The examination begins by inserting a lubricated rectal tube into the patient's rectum to administer a radiopaque barium solution. The barium flow is carefully...
268
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
160
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
160
Imaging Studies III: Gastrointestinal Motility Studies and Virtual Colonoscopy
84
This lesson explores three gastrointestinal imaging techniques: radionuclide testing, colonic transit studies, and virtual colonoscopy.
Radionuclide Testing
Radionuclide testing is a sophisticated medical technique for assessing gastrointestinal motility. It focuses on gastric emptying and colonic transit time. Radioactive markers track the movement of food through the digestive system, providing insights into gastrointestinal disorders.
In gastric emptying studies, a meal's liquid and...
Radionuclide Testing
Radionuclide testing is a sophisticated medical technique for assessing gastrointestinal motility. It focuses on gastric emptying and colonic transit time. Radioactive markers track the movement of food through the digestive system, providing insights into gastrointestinal disorders.
In gastric emptying studies, a meal's liquid and...
84
Inflammatory Bowel Disease V: Surgical Management
145
Surgical interventions for inflammatory bowel disease (IBD), which includes ulcerative colitis and Crohn's disease, are essential in managing symptoms and addressing complications. The selection of surgical procedures is contingent upon the specific conditions and complications that stem from these illnesses.
Here are some common surgical interventions for IBD:
Here are some common surgical interventions for IBD:
145


