急性肝衰竭的遗传病因
Robert Hegarty1,2, Richard J Thompson1,2
1Paediatric Liver, GI and Nutrition Centre, King's College Hospital, London, UK.
Journal of inherited metabolic disease
|March 18, 2024
概括
儿童急性肝衰竭 (ALF) 的单一原因越来越多地使用基因组医学进行诊断. 快速基因测序对于识别这些遗传代谢障碍和指导治疗至关重要.
科学领域:
- 儿科肝病学 儿科肝病学
- 基因组医学是基因组医学.
- 罕见疾病 罕见疾病
背景情况:
- 急性肝衰竭 (ALF) 是一种严重的疾病,死亡率高,通常需要进行肝移植.
- 从历史上看,诊断儿科ALF的原因一直是具有挑战性的,许多病例仍然无法解释.
- 基因组医学的进步正在揭示越来越多的单基因导致ALF的原因.
研究的目的:
- 审查儿童急性肝衰竭的单一性病因.
- 突出基因组测序在诊断儿科ALF中的重要性.
- 讨论已识别的单一性疾病的预后和治疗影响.
主要方法:
- 文献综述侧重于ALF的单一原因.
- 强调快速基因组测序在诊断中的作用.
- 讨论表现为ALF的遗传代谢障碍.
主要成果:
- 儿童ALF病例中的很大一部分现在归因于单一性疾病.
- 这些遗传条件是多样化的,可以模仿其他疾病,包括免疫或红细胞疾病.
- 基因组测序已成为识别这些潜在遗传原因的关键诊断工具.
结论:
- 单一性疾病是儿童急性肝衰竭的重要原因之一,而且越来越多.
- 通过快速基因组测序进行早期诊断对于适当的管理和治疗策略至关重要.
- 了解这些遗传病因可以改善患者的治疗结果,并为预后提供信息.
相关概念视频
Liver Regeneration
3.3K
The liver is an important organ in vertebrates that plays an essential role in metabolism. It is also responsible for storing and redistributing nutrients such as carbohydrates, fats, and vitamins in the body. Additionally, the liver releases bile salts which are critical for digesting food and eliminating toxic metabolites from the body.
Cells of Liver
The liver comprises four major types of cells— hepatocytes, stellate, Kupffer, and sinusoidal endothelial cells. The hepatocytes are...
Cells of Liver
The liver comprises four major types of cells— hepatocytes, stellate, Kupffer, and sinusoidal endothelial cells. The hepatocytes are...
3.3K
Cell Specific Gene Expression
13.6K
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
13.6K
Diseases of the Liver and Gallbladder
535
Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
535
Liver Physiology
544
The liver, an essential organ in the human body, performs over 200 vital functions that can be broadly categorized into metabolic, hematological, endocrine regulation, and bile production.
Metabolic Regulation:
The liver is the central organ involved in regulating blood composition. It stabilizes blood glucose levels, maintaining them within the range of 70–110 mg/dL. When these levels drop, the liver breaks down glycogen reserves and releases glucose into the bloodstream. It can...
Metabolic Regulation:
The liver is the central organ involved in regulating blood composition. It stabilizes blood glucose levels, maintaining them within the range of 70–110 mg/dL. When these levels drop, the liver breaks down glycogen reserves and releases glucose into the bloodstream. It can...
544
Gastritis-II: Pathophysiology
324
Gastritis is marked by disruption of the mucosal barrier that usually protects the stomach tissue from digestive juices and manifests in acute and chronic forms.
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
324
Acute Pancreatitis II: Clinical Manifestations and Management
122
Acute pancreatitis presents a complex medical emergency characterized by rapid onset inflammation of the pancreas, demanding timely diagnosis and management to prevent complications. The condition primarily manifests through severe upper abdominal pain that often radiates to the back. This pain intensifies following the consumption of fatty foods. Accompanying symptoms such as nausea, vomiting, abdominal distention, fever, dyspnea, cyanosis, and jaundice can vary in intensity but significantly...
122


