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Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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ABCA3-related interstitial lung disease beyond infancy.

Yang Li1,2,3, Elias Seidl1,2, Katrin Knoflach1,2

  • 1Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.

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Children with ABCA3 lung disease often face severe respiratory issues. This study shows their interstitial lung disease progresses through childhood, highlighting the need for new treatments.

Keywords:
ABCA3paediatric interstitial lung diseaserare lung diseases

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Area of Science:

  • Pediatric Pulmonology
  • Genetic Respiratory Diseases
  • Interstitial Lung Disease

Background:

  • Childhood interstitial lung disease (chILD) from ATP binding cassette subfamily A member 3 (ABCA3) variants typically leads to severe respiratory insufficiency and high mortality in the first year of life.
  • Lung transplantation is often the only option for survival in severe ABCA3-related chILD.
  • This study focuses on the long-term outcomes of patients with ABCA3 lung disease who survive beyond infancy.

Purpose of the Study:

  • To review the long-term clinical course, oxygen requirements, and pulmonary function in children with ABCA3 deficiency who survived past one year of age.
  • To understand the natural history and progression of ABCA3-related interstitial lung disease in a pediatric cohort.
  • To identify factors influencing survival and disease progression in this patient group.

Main Methods:

  • A register-based cohort study utilizing the Kids Lung Register database over a 21-year period.
  • Identification and review of 44 patients diagnosed with chILD due to ABCA3 deficiency who survived beyond their first year.
  • Assessment of long-term clinical course, oxygen supplementation, pulmonary function, chest CT scans, and histopathology, with blind scoring.

Main Results:

  • Of 44 patients, 82% (36/44) were alive without transplantation at a median age of 6.3 years.
  • Survival was significantly longer for patients never requiring oxygen supplementation compared to those requiring persistent oxygen (9.7 years vs. 3.0 years).
  • Evidence of progressive interstitial lung disease was observed through declining lung function (-1.1% FVC/year) and increasing cystic lesions on CT scans.

Conclusions:

  • ABCA3-related interstitial lung disease follows a progressive natural history throughout childhood and adolescence.
  • The findings underscore the urgent need for disease-modifying therapies to slow the progression of ABCA3-related lung disease.
  • Residual ABCA3 transporter function may be present in some patients with missense variants or small indels.