在患有TARP综合征的患者中,维特林血管残留物导致肠道阻塞
Jacklyn Omorodion1, Laura Tannenbaum2, John Patrick O'Neill3
1Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Birth defects research
|June 21, 2023
概括
TARP综合征是一种遗传性疾病,可以呈现出罕见的状血管残留物 (VVR). 尸体解剖显示,TARP综合征的新生儿有VVR,这解释了食不耐受.
科学领域:
- 医学遗传学 医学遗传学
- 发育生物学是发展生物学.
- 儿科病理学 儿科病理学
背景情况:
- TARP综合征是一种由RBM10变异引起的X链接的衰退性疾病,表现为尾巴等级,心房隔膜缺陷,罗宾序列和持续的左上 vena cava.
- 维特林血管残留物 (VVR) 是罕见的维特林管道异常,以前报告的病例有限.
- 在TARP综合征患者中,之前没有记录过VVR病例.
结论:
- 尸体解剖检查出乎意料地发现了一种VVR,与近肠扩张和婴儿的食不耐受有关.
- 这一案例强调了全面尸检在阐明全谱遗传综合征方面的重要性.
- 进行了一项文献综述,以将这种罕见的发现与现有的医学知识联系起来.
相关概念视频
Venous Thrombosis I: Introduction
Venous thrombosis, the most common disorder of the veins, involves the formation of a thrombus or blood clot associated with vein inflammation. It can be classified as either superficial vein thrombosis or deep vein thrombosis.Superficial Vein Thrombosis: This involves the formation of a thrombus in a superficial vein, usually the greater or lesser saphenous vein. Though less severe than deep vein thrombosis (DVT), SVT can lead to complications if untreated.Deep Vein Thrombosis (DVT): This...
Intestinal Obstruction I: Introduction
Intestinal obstruction is a partial or complete blockage of the small or large intestine that disrupts the normal flow of intestinal contents through the lumen. This interruption impairs digestion, absorption, and fluid balance, and may lead to serious complications if not treated promptly.Mechanical ObstructionMechanical obstruction occurs when a physical blockage prevents intestinal contents from passing, arising from within the lumen or the bowel wall, or from external compression.Adhesions,...
Intestinal Obstruction II: Pathophysiology
Intestinal obstruction triggers a series of physiological responses, starting with gas and fluid accumulation in the bowel segment proximal to the obstruction, leading to distension. This distended intestine compresses the diaphragm, hindering lung expansion and potentially leading to reduced respiratory effort, atelectasis, and pneumonia.To overcome the blockage, the gut intensifies contractions, causing colicky abdominal pain, nausea, and vomiting, which reduces fluid and food intake and...
Diverticular Disease of the Colon
Diverticular disease involves the formation of diverticula—small sac-like outpouchings of the colonic wall—and their complications. It most commonly affects the sigmoid colon due to higher intraluminal pressure and structural vulnerability. It results from structural weakness and increased pressure in the colon, producing pseudodiverticula that may remain silent or progress to inflammation and serious complications.Structure of DiverticulaIn diverticulosis, these outpouchings are...
Appendicitis
Appendicitis is an acute inflammatory condition of the vermiform appendix, most commonly caused by obstruction of its lumen. The appendix is a narrow, blind-ended pouch that extends from the cecum, making it particularly prone to obstruction. Causes include fecaliths, lymphoid hyperplasia (often after viral infections), parasites, tumors, or foreign bodies. This obstruction initiates a cascade of pathological changes.Luminal Obstruction and Early InflammationAfter obstruction, normal mucosal...


