儿童间歇性肺病:评估和管理
Antonio Moreno-Galdo1,2, Ignacio Iglesias-Serrano1, Sandra Rovira-Amigo1,2
1Section of Pediatric Allergy and Pulmonology, Department of Pediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain.
儿童间歇性肺病 (Children's Interstitial Lung Disease,ChILD) 涵盖了200多种罕见疾病,其患病率高于此前的估计. 早期诊断和多学科方法对于管理这些复杂的儿科肺部疾病至关重要.
科学领域:
- 儿科肺病学 儿科肺病学
- 罕见疾病 罕见疾病
- 遗传学 是一个遗传学.
背景情况:
- 儿童间歇性肺病 (Children's Interstitial Lung Disease,ChILD) 包含200多种罕见的异质性疾病.
- 患病率高于以前的认可,特别是在两岁以下的儿童中.
- 早期发病的CHILD通常是遗传的或与肺部发育障碍有关.
研究的目的:
- 突出儿童间歇性肺部疾病的异质性和患病率.
- 强调早期诊断和多学科护理的重要性.
- 讨论诊断方法和ChILD治疗的不断变化的格局.
主要方法:
- 审查目前对CHILD发病率和流行率的理解.
- 诊断工作的描述,包括成像,支气管镜和遗传检测.
- 讨论CHILD的遗传基础和未定义的原因.
主要成果:
- 儿童发病率约为8.2 / 100万,患病率约为46.4 / 100万,高于此前估计的.
- 40-60%的病例发生在2岁以下的儿童中.
- 在10-20%的病例中发现了遗传原因,12%的病例未被定义 (未被定义的chILD).
结论:
- 多学科专家中心的方法对于CHILD诊断和管理至关重要.
- 包括遗传学研究在内的全面诊断测试至关重要.
- 虽然特定的治疗方法有限,但了解病理生理学有助于开发新的治疗方法.
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