巴斯综合征:婴儿和幼儿的自然史
Sharada Vishwanath1, Anne Brockmeyer2, Brittany Hornby2
1Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.
婴儿的巴斯综合征 (BTHS) 呈现出严重的心脏,生长和发育问题. 早期遗传诊断使得及时干预和监测能够在这种罕见的线粒体疾病中获得更好的结果.
科学领域:
- 遗传学和罕见疾病.
- 儿科心脏病学 儿科心脏病学
- 发育儿科 发育儿科
背景情况:
- 巴斯综合征 (BTHS) 是一种罕见的X相关线粒体疾病,由TAFAZZIN的致病变体引起.
- 它的特点是心肌病,中性质减退,生长延迟,骨肌病和发育问题.
- 基因检测的进步允许更早的诊断和更好地了解早期疾病的自然史.
研究的目的:
- 纵向观察和描述男婴和幼儿BTHS的自然史.
- 在这个群体中定义共同的表现特征,疾病进展和生活质量.
- 为了确定未来临床试验的关键终点.
主要方法:
- 在21名男性患者 (0-48个月) 进行了长度观察性研究,这些患者有遗传确认的BTHS.
- 数据收集包括围产史,生长,养,心脏功能,血液学发现,总运动发育 (PDMS-2/3),生活质量 (PedsQLTM) 和疼痛.
- 分析侧重于共同特征,疾病进展和功能结果.
主要成果:
- 诊断时的平均年龄为5.5个月,比历史队伍早.
- 心肌病 (n=10) 和发育不良 (n=6) 是常见的表现特征.
- 18名患者患有心脏功能障碍,25%需要心脏移植,19名患者患有中性质减退症. 经常出现食困难 (n=16) 和总运动发育迟缓. 生活质量明显受损,特别是在疲劳和一般功能方面.
结论:
- 患有BTHS的婴儿和幼儿表现出显著的心脏,生长和发育异常.
- 通过基因检测进行早期诊断对于干预和监测至关重要.
- 积极的心脏监测,营养支持和早期治疗对于优化年轻BTHS患者的治疗结果至关重要.
更多相关视频
06:19Author Spotlight: Implications of Non-Nutritive Sucking on Speech Emergence and Infant Development
Published on: April 19, 2024
05:04A Common Marmoset Model of Mother-Infant Intervention for Breastfeeding Disorders in the Presence of Paternal Inhibition and Maternal Neglect
Published on: September 22, 2023
相关概念视频
Barrett Esophagus-I: Introduction
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...
Barrett Esophagus-II: Clinical Manifestations and Management
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
Upper GI Series: Barium Swallow
Purpose and Procedure
Patients undergoing this procedure ingest a liquid containing barium sulfate with a chalky...
Development of Immunocompetence
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
Piaget's Stage 1 of Cognitive Development
Exploration...
Pedigree Analysis
