Dr von Haunersches Kinderspital, University of Munich, Lindwurmstr 4a, D-80337 Munich, Germany.
Orphanet J Rare Dis. 2009 Dec 12;4:26. doi: 10.1186/1750-1172-4-26.
Diffuse parenchymal lung diseases (DPLD) in children represent a rare and heterogeneous group of chronic pulmonary disorders. Despite substantial advances in enetics and pathomechanisms, these often lethal diseases are still under-diagnosed. This is due to the fact that (i) the incidence is low, and (ii) clinical presentation, (iii) disease classification and (iv) specific treatment options are largely unknown.
Here we systematically assessed the incidence, the presentation, the diagnostic yield and treatments of pediatric DPLD in Germany, using the Surveillance Unit for Rare Paediatric Disorders (ESPED).
The incidence of DPLD was 1.32 new cases per 1 million of children per year. The majority of these children were diagnosed within the first year of life. Overall survival was 87%. Using centralized data entry and stratification tools, the patients were categorized into an advanced classification system based on diagnostic algorithms, including clinical presentations, genetics and/or histology. Combining molecular and clinical information, this survey provides an etiological overview and specific diagnostic recommendations for children with DPLD.
Standardized surveys and systematic classifications are valuable tools for the clinical handling of children with DPLD and aim to improve the disease understanding and the prognosis of these rare detrimental lung diseases.
儿童弥漫性肺疾病（DPLD）是一组罕见且异质性的慢性肺部疾病。尽管在遗传学和发病机制方面取得了重大进展，但这些通常致命的疾病仍未得到充分诊断。这是因为（i）发病率低，（ii）临床表现，（iii）疾病分类和（iv）特定的治疗选择在很大程度上尚未被认识。
我们使用罕见儿科疾病监测单位（ESPED）系统地评估了德国儿童 DPLD 的发病率、表现、诊断效果和治疗方法。
DPLD 的发病率为每年每百万儿童 1.32 例新发病例。这些患儿中的大多数在出生后的第一年被诊断出来。总体生存率为 87%。通过集中的数据录入和分层工具，根据诊断算法（包括临床表现、遗传学和/或组织学）将患者分为先进的分类系统。通过结合分子和临床信息，该调查为 DPLD 患儿提供了病因概述和具体的诊断建议。
标准化的调查和系统分类是处理儿童 DPLD 的宝贵工具，旨在提高对这些罕见肺部疾病的认识和预后。
