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Pulmonary surfactant metabolism dysfunction: A pediatric clinical case report
Carlos Cambaceres1, Victoria Viggiano1, Camila Parellada1
1Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina.
A rare pediatric interstitial lung disease was diagnosed in an infant with respiratory distress. Genetic testing revealed a pulmonary surfactant metabolism dysfunction, a condition also suspected in the mother.
Area of Science:
- Pediatric Pulmonology
- Rare Diseases
- Genetics
Background:
- Interstitial lung diseases (ILDs) are uncommon in children.
- Pulmonary surfactant dysfunction can lead to alveolar collapse and respiratory distress.
- A familial component is suggested in some rare ILDs.
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