Pierre Goussard, Pawel Schubert, Lizelle van Wyk, Lynn Booysen, André Gie, Michael Urban, Jacques Janson, Savvas Andronikou, Ernst Eber
Stellenbosch University and Tygerberg Hospital. University of the Witwatersrand. Children’s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine. Medical University of Graz
South Africa, United States and Austria
Canadian Respiratory Journal
Can Respir J 2026;
DOI: 10.1155/carj/1509295
Abstract
Introduction: Neonatal lung biopsy guides management of unusually severe, diffuse lung disease with an uncertain diagnosis. Childhood interstitial lung disease (chILD) constitutes a diverse group of uncommon respiratory diseases which are associated with major morbidity and mortality. The incidence, outcome and mortality of chILD and other severe respiratory diseases in resource-limited settings (RLS) are unclear.
Objective: This retrospective, descriptive study examined lung biopsy in an RLS on infants up to 3 months of age to diagnose and facilitate management. This study included neonates with severe respiratory distress not responding to surfactant replacement.
Results: Lung biopsy was diagnostic in 94% (29/31) of patients without procedure-related mortality. The mean gestational age at birth was 35.8 weeks (SD ± 4.6). The mean presentation age was 20 days of life (IQR 1-28). Of 31 participants, 16% (n = 5) had histological findings in keeping with pulmonary interstitial glycogenosis (PIG) only. Sixteen percent (n = 5) of biopsies showed findings in keeping with adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3) deficiency in combination with features of PIG on electron microscopy. Surfactant protein (SFTP)-B deficiency and undefined surfactant deficiency were equally prevalent (6% (n = 2). Pulmonary hypertension (PHT) featured in 61% (n = 17) of infants. Genetic testing was performed on 29% (n = 9) of infants, with 56% (n = 5) showing normal results. The cohort mortality was 42% (n = 13).
Conclusions: ChILD should be considered in neonates with severe respiratory distress and PHT not responding to surfactant replacement. Lung biopsy is safe and diagnostic and may prevent long and futile treatment. Histopathological diagnosis frequently assists treatment decisions. Future multicentre studies should include children from an RLS to collect information on diagnoses, genetics and treatment responses.
Category
Class III. Pulmonary Hypertension Associated with Developmental Diseases of the Lung
Genetic Factors Associated with Pulmonary Vascular Disease
Pulmonary Vascular Pathology
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes