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Published on: December 19, 2020
Childhood Interstitial Lung Disease Masquerading as Post COVID-19 Respiratory Distress
Sinan Yavuz1, Ronda Alsamhouri2, Nader Francis3
1Paediatrics, Al Qassimi Women's and Children's Hospital, Sharjah, ARE.
Insights
Childhood interstitial lung disease (chILD) caused by ABCA3 protein deficiency can be fatal. This case highlights a unique presentation in an infant, emphasizing the importance of early diagnosis and treatment for survival.
Area of Science:
- Pulmonary Medicine
- Genetics
- Neonatology
Background:
- Childhood interstitial lung diseases (chILD) encompass diverse pulmonary conditions affecting infants and children.
- Surfactant dysfunction, often due to genetic factors like ABCA3 protein deficiency, is a significant cause of neonatal respiratory distress.
- ABCA3 protein is crucial for surfactant production and lamellar body formation in alveolar type II cells.
Observation:
- A 14-month-old boy presented with respiratory symptoms at three months of age, initially masked by a COVID-19 infection.
- The patient exhibited shortness of breath and poor feeding, indicative of underlying pulmonary pathology.
- The clinical presentation was atypical for ABCA3 deficiency, complicating initial diagnosis.
Findings:
- Genetic analysis confirmed a deficiency in the ABCA3 protein, leading to impaired surfactant function.
- The infant's condition, though severe, showed a positive response to a treatment regimen including macrolides, steroids, and hydroxychloroquine.
- This case illustrates a unique and challenging presentation of ABCA3 deficiency in infancy.
Implications:
- Early diagnosis and tailored treatment strategies are critical for improving outcomes in infants with chILD due to ABCA3 deficiency.
- Understanding atypical presentations of genetic lung diseases is essential for timely and effective management.
- This case underscores the potential for survival in severe chILD cases with appropriate medical intervention.
Abstract:
Childhood interstitial lung diseases (chILD) are a set of illnesses affecting the bronchoalveolar spaces and the cellular compartment of the lungs. In the neonatal period, they are mainly classified under disorders of development, growth, surfactant dysfunction, and others of unknown causes distinctive in infancy. One of the most common causes is the deficiency of triphosphate binding cassette transporter A3 (ABCA3) protein. It activates impairment in the function of surfactants, resulting in respiratory distress in term infants, which is lethal in many cases and in some other cases leads to interstitial lung disease. We herein present a case of a 14-month-old boy with a peculiar case of ABCA3 protein deficiency that was masked at birth with COVID-19 infection and then presented with shortness of breath and poor feeding at the age of three months. The child was treated with macrolides, steroids, and hydroxychloroquine, with which he survived beyond the age of one year.
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