在患有囊性纤维化高患病率的人群中对新生儿进行查 - - 爱尔兰十年的经验
Fiona McGuire1, Abigail Collins2, Mohamed Elsammak3
1Department of Public Health - HSE Dublin and Midlands, HSE Area Offices, Arden Road, Tullamore, Count Offaly, R35 TY28, Ireland.
Respiratory medicine
|December 12, 2025
概括
爱尔兰的囊性纤维化新生儿查计划在其第一个十年中有效地发现了病例. 该计划表现出强的表现,满足了在新生儿中检测这种罕见遗传疾病的国际标准.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 公共卫生 公共卫生
背景情况:
- 爱尔兰的囊性纤维化 (CF) 患病率很高.
- 针对CF的新生儿查 (NBS) 于2011年7月实施.
- 查协议涉及免疫反应性试素 (IRT) 和DNA测试.
研究的目的:
- 评估爱尔兰CF NBS计划在最初10年的表现.
- 根据国际标准对关键绩效指标进行评估.
主要方法:
- 2011年至2021年国家出生数据和CF NBS实验室数据的审查.
- 查结果的分析,包括IRT水平,突变识别和病例检测.
主要成果:
- 超过65万名婴儿进行了查,检测到284例CF病例,敏感度为97.9%.
- 生产时患有CF的发病率为2203例活产中的1例.
- 该计划确定了21例CFSPID病例,CF:CFSPID比率为13.2:1.
结论:
- 爱尔兰CF NBS计划在最初的十年中表现良好.
- 查指标达到或超过了国际基准.
- 该计划有效地识别了患有囊性纤维化症的新生儿.
相关概念视频
Cystic Fibrosis: Pathogenesis
679
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
679
Cystic Fibrosis: Management
443
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
443


