在台湾,Gaucher病的临床表现变化
Wen-Li Lu1, Yin-Hsiu Chien2,3, Fuu-Jen Tsai4,5
1Department of Clinical Pathology, Chi Mei Medical Center, Tainan, Taiwan.
Orphanet journal of rare diseases
|September 15, 2023
概括
新生儿对高希氏病 (GD) 的查使早期的酶替代疗法 (ERT) 成为可能,改善了结果. 然而,对于GD3患者的神经症状的有效治疗仍然是必要的.
科学领域:
- 遗传学 是一个遗传学.
- 生物化学 生物化学
- 儿科 儿科 儿科
背景情况:
- 氏病 (Gaucher disease,简称GD) 是一种由GBA1基因突变引起的遗传溶酶体储存障碍.
- GD呈现出多种现象型,根据神经系统的参与被分为三种亚型.
- 自1998年以来,酶替代疗法 (ERT) 已在台湾提供,自2015年以来,新生儿查 (NBS) 已在台湾提供.
研究的目的:
- 调查台湾不同时期诊断的高氏病患者的临床特征.
- 为了比较诊断时间和可用的治疗对GD患者结果的影响.
主要方法:
- 两家台湾主要医院 (1998-2022) 的健康记录的回顾性分析.
- 包括42名高氏病患者,其中6名通过NBS诊断.
- 对临床特征,亚型,遗传变异和治疗反应的审查.
主要成果:
- 与全球数据相比,GD3病例的比例较高,GD2和GD3是NBS后的主要亚型.
- 这种p.Leu483Pro变种是常见的. 5年后,GD2的生存率为0%,其他亚型的生存率为100%.
- 在诊断时,NBS时代的患者大多是无症状的,与早期诊断的患者不同,他们因血液和骨问题受益于ERT,尽管GD3神经进展持续.
结论:
- ERT对于管理高氏病的血液和骨并发症至关重要.
- 新生儿查有助于早期ERT,防止疾病的进展和并发症.
- 对高氏病神经功能障碍的有效干预仍然是一个关键的未满足的需求.
相关概念视频
01:23Gastritis III: Clinical Manifestations and Management
319
The clinical manifestations of gastritis can vary depending on the cause and type of gastritis, but some common symptoms may include the following.
Clinical manifestations of acute gastritis
The patient with acute gastritis may have a rapid onset of symptoms, such as epigastric pain or discomfort, dyspepsia, anorexia, hiccups, or nausea and vomiting, which can last from a few hours to a few days. Erosive or hemorrhagic gastritis may cause bleeding, which may manifest as blood in vomit or as...
Clinical manifestations of acute gastritis
The patient with acute gastritis may have a rapid onset of symptoms, such as epigastric pain or discomfort, dyspepsia, anorexia, hiccups, or nausea and vomiting, which can last from a few hours to a few days. Erosive or hemorrhagic gastritis may cause bleeding, which may manifest as blood in vomit or as...
319
01:30Coronary Artery Disease III: Clinical Manifestations
13
Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
13
01:30Acute Pancreatitis II: Clinical Manifestations and Management
148
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...
148
01:28Peptic Ulcer Disease III: Clinical Manifestations and Diagnostic Studies
155
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.
155
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
13
Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
13
01:29Chronic Pancreatitis II: Collaborative Care
113
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
Assessment:
113