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Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
Published on: March 6, 2019
Children's interstitial and diffuse lung disease
Steve Cunningham1, Adam Jaffe2, Lisa R Young3
1Paediatric Respiratory Medicine, Centre for Inflammation Research, University of Edinburgh, Edinburgh, UK.
Insights
Children's interstitial and diffuse lung disease (chILD) is rare and hard to diagnose. International collaboration and genetic insights are key to advancing treatments for these over 200 lung conditions.
Area of Science:
- Pediatric Pulmonology
- Rare Diseases
- Genetics
Background:
- Children's interstitial and diffuse lung disease (chILD) comprises over 200 rare conditions.
- Symptoms often mimic common ailments, complicating diagnosis and treatment.
- Current empirical therapies are limited and carry risks, especially for infants.
Purpose of the Study:
- To highlight the challenges in diagnosing and treating chILD.
- To emphasize the need for international collaboration in chILD research.
- To discuss the evolving role of genetics and novel therapeutics in chILD.
Main Methods:
- Review of current clinical practices and research in chILD.
- Analysis of the impact of genetics on chILD diagnosis and classification.
- Assessment of existing and emerging therapeutic strategies for chILD.
Main Results:
- Clinical collaborations are improving diagnostic accuracy and understanding of chILD.
- Genetics is increasingly vital for accurate chILD diagnosis and may align classification systems.
- Novel therapeutics show promise, but validated outcome measures are urgently needed.
Conclusions:
- Greater international collaboration is essential to address knowledge gaps in chILD.
- Advancements in genetics and targeted therapies offer hope for chILD patients.
- Development of reliable outcome measures is critical for future chILD research and treatment.
Abstract:
Children's interstitial and diffuse lung disease (chILD) is a rare heterogenous group of conditions, with symptoms often overlapping with more common conditions, impeding diagnosis and frustrating parents and clinicians alike. Clinical collaborations are improving diagnostic precision, disease phenotyping, mechanistic understanding, and interventional therapeutic capability; however, with over 200 conditions, chILD requires greater aligned international collaboration to address the knowledge gaps. The use of genetics plays an increasing part in diagnosis, and thus might help to align current classification systems. Empirical therapeutics are few, of no proven benefit, and with important side-effects, particularly in infants. Novel therapeutics postulated for several chILD conditions on the basis of mechanistic observations are in development and represent real hope for those conditions to which they apply. Broader therapeutics against the downstream effects (ie, fibrosis) are under consideration for chILD conditions, but require adequately validated biological outcome measures, which the chILD community urgently needs to address.
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