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Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
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Interstitial lung disease in infancy.

Andrew Bush1, Carlee Gilbert2, Jo Gregory3

  • 1Imperial College, UK; Royal Brompton and Harefield NHS Foundation Trust, UK.

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|September 22, 2020
PubMed
Summary
This summary is machine-generated.

Congenital interstitial lung disease (chILD) presents a diagnostic challenge in newborns with respiratory distress. Early diagnosis, often requiring genetic analysis or lung biopsy, is crucial for appropriate management and genetic counseling.

Keywords:
Alveolar capillary dysplasiaLung biopsyNeuroendocrine cell hyperplasia of infancyPulmonary interstitial glycogenosisSurfactant protein

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Area of Science:

  • Pediatric Pulmonology
  • Neonatology
  • Medical Genetics

Background:

  • Congenital interstitial lung disease (chILD) is a rare but critical consideration in term neonates with respiratory distress.
  • Early-onset chILD is often linked to surfactant protein gene mutations or the Congenital Acinar Dysplasia - Alveolar capillary dysplasia - Congenital Alveolar Dysplasia (CAD-ACD) spectrum, typically requiring supportive care with a poor prognosis.
  • Milder forms, including neuroendocrine cell hyperplasia of infancy (NEHI) and pulmonary interstitial glycogenosis (PIG), may present with slower progression and potential for improvement.

Purpose of the Study:

  • To outline the diagnostic approaches and management strategies for early-onset congenital interstitial lung disease (chILD) in neonates.
  • To emphasize the importance of genetic analysis and lung biopsy in diagnosing chILD, particularly the CAD-ACD spectrum.
  • To highlight the need for comprehensive, multidisciplinary support for chILD survivors and their families.

Main Methods:

  • Review of current literature and clinical guidelines for diagnosing and managing early-onset chILD.
  • Discussion of diagnostic tools including genetic testing and lung biopsy.
  • Analysis of prognostic factors and treatment outcomes for various chILD subtypes.

Main Results:

  • Early-onset chILD has a diverse etiology, with severe forms often associated with genetic mutations and a poor prognosis.
  • Diagnostic challenges exist, especially for the CAD-ACD spectrum, necessitating careful consideration of lung biopsy.
  • Less severe forms like NEHI and PIG may allow for slower improvement and eventual weaning from respiratory support.

Conclusions:

  • Accurate and timely diagnosis of early-onset chILD is essential for guiding management and providing genetic counseling.
  • Supportive care is the mainstay for severe chILD, while milder forms may improve over time.
  • Long-term, coordinated multidisciplinary support is vital for chILD survivors and their families.