胆囊疾病的表征在甲色白血病在整个寿命的表征
Sylvia Mutua1, Anjana Sevagamoorthy1, Sarah Woidill1
1The Children's Hospital of Philadelphia, Neurology, 3401 Civic Center Blvd, Philadelphia 19104, PA, USA.
Molecular genetics and metabolism
|December 29, 2024
概括
超染色性白血病 (MLD) 通常会导致胆囊并发症,甚至在神经症状出现之前. 定期监测胆囊可能有助于预测MLD患者的疾病发病和进展.
科学领域:
- 遗传学和罕见疾病
- 神经学 神经学
- 胃肠病学 胃肠病学
背景情况:
- 甲基色白血病 (MLD) 是一种罕见的,由硫酸盐积累引起的渐进性脱髓化疾病.
- 虽然MLD的神经退行症是众所周知的,但像胆囊干预等系统性并发症的特征较少.
- 了解胆囊疾病的进展对于早期MLD检测和管理至关重要,特别是在新生儿查方面.
研究的目的:
- 调查甲基染色白血病 (MLD) 中胆囊并发症的患病率和发展轨迹.
- 探索胆囊异常和MLD的神经进展之间的关系.
- 评估胆囊参与的可能性作为MLD的早期生物标志物.
主要方法:
- 对MLD患者的回顾性自然史研究,包括对胆囊异常的医疗记录审查.
- 使用总运动功能分类表 (GMFC-MLD) 评估的神经功能.
- 综合性文献审查,以识别和分析已发表的MLD病例与胆囊数据.
主要成果:
- 胆囊异常在自然史队列中非常普遍 (97.2%),通常在初始评估时检测到.
- 胆囊参与发生在MLD亚型 (晚期婴儿,青少年,成年人) 的比例相似,与神经学严重程度无关 (GMFC-MLD得分).
- 文献审查证实了MLD中胆囊参与率很高,在疾病过程的早期出现.
结论:
- 胆囊并发症在MLD中很常见,并且可以在早期表现出来,甚至在显著的神经症状出现之前.
- 建议定期对胆囊进行监测,作为MLD患者临床护理的一部分.
- 胆囊异常可能作为MLD疾病发病和进展的预测生物标志物.
相关概念视频
Diseases of the Liver and Gallbladder
450
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...
450
Gallbladder
347
The gallbladder is a small, pear-shaped organ that plays a crucial role in our digestive system. Measuring about 10 cm in length, it is comparable in size to a kiwi fruit and is located in a hollow area on the lower surface of the liver. The gallbladder's primary function is to store and concentrate bile, a fluid produced by the liver that aids in digestion.
The gallbladder's anatomy consists of three regions: the fundus, body, and neck. Extending from the neck, the cystic duct joins...
The gallbladder's anatomy consists of three regions: the fundus, body, and neck. Extending from the neck, the cystic duct joins...
347
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Chronic Pancreatitis I: Introduction
71
The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
71
Chronic Bowel Disorders: Introduction
386
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...
386


