遗传性腹和肠道病变 遗传性腹和肠道病变
Jutta Köglmeier1, Keith James Lindley1
1Department of Paediatric Gastroenterology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK.
Nutrients
|September 14, 2024
概括
先天性腹和肠病 (CODE) 是罕见的婴儿疾病. 改进的诊断和营养支持允许生存,但进一步的研究对于新疗法和治疗方法至关重要.
科学领域:
- 儿科胃肠病学 儿科胃肠病学
- 罕见疾病 罕见疾病
- 遗传学 是一个遗传学.
背景情况:
- 先天性腹和肠病 (CODE) 是一组多样化的罕见儿科疾病.
- 婴儿在生命早期经常出现严重脱水,尽管临床表现各不相同.
- 最近在了解遗传原因和改善管理方面取得的进展,包括腹腔营养,提高了生存率.
研究的目的:
- 审查有关先天性腹和肠病 (CODE) 的当前文献.
- 概述这些罕见疾病的诊断和治疗方法.
- 强调医疗保健专业人员需要提高意识.
主要方法:
- 关于先天性腹和肠病 (CODE) 的综合文献综述.
- 对诊断标准和治疗策略的分析.
- 综合有关病理机制和遗传基础的当前知识.
主要成果:
- CODE包括各种各样的亚型,其中许多需要长期或终身的亲肠道营养.
- 基因检测和支持性护理方面的进展显著改善了患者的治疗结果.
- 识别和管理策略正在发展,但挑战仍然存在.
结论:
- 对于儿童和成人医生来说,提高对CODE的认识和理解至关重要.
- 进一步的研究是必要的,以确定新的CODE亚型,并开发有针对性的疗法.
- 最终的目标是改善管理,并努力为受影响的儿童提供潜在的长期治疗方法.
相关概念视频
Chronic Bowel Disorders: Introduction
410
Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
410
Inborn Errors of Metabolism
145
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
145
Drugs Affecting GI Tract Motility: Antimicrobials as Antidiarrheal Agents
111
Acute diarrhea, a common gastrointestinal disturbance, is characterized by the rapid evacuation of fluid stools, leading to an excessive weight in fluid. This condition typically arises from disorders affecting intestinal water and electrolyte transport. It can be triggered by an increased osmotic load within the intestine, excessive secretion of electrolytes and water, mucosal exudation of protein and fluid, or altered intestinal motility. The primary risks of acute diarrhea are dehydration...
111
Immunodeficiency Diseases
923
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
There are three main causes of immunodeficiency...
923
Gastrointestinal Motility Disorders
293
Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...
293
Inflammatory Bowel Disease II: Crohn's Disease
201
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
201


