Severe Neonatal Interstitial Lung Disease Caused by a Rare Surfactant Protein C Mutation.
Pediatrics
; 151(6)2023 06 01.
Article
em En
| MEDLINE
| ID: mdl-37232099
ABSTRACT
Childhood interstitial lung disease (chILD) is a collective term for a group of rare lung disorders of heterogeneous origin. Surfactant dysfunction disorders are a cause of chILD with onset during the neonatal period and infancy. Clinical signs of tachypnea and hypoxemia are nonspecific and usually caused by common conditions like lower respiratory tract infections. We report on a full-term male newborn who was readmitted to the hospital at 7 days of age with marked tachypnea and poor feeding during the respiratory syncytial virus season. After exclusion of infection and other, more common congenital disorders, chILD was diagnosed using chest computed tomography and genetic analysis. A likely pathogenic heterozygous variant of SFTPC (c.163C>T, L55F) was detected by whole exome sequencing. The patient received supplemental oxygen and noninvasive respiratory support and was treated with intravenous methylprednisolone pulses and hydroxychloroquine. Despite the treatment, his respiratory situation deteriorated continuously, leading to several hospitalizations and continuous escalation of noninvasive ventilatory support. At 6 months of age, the patient was listed for lung transplant and transplanted successfully aged 7 months.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteína C
/
Doenças Pulmonares Intersticiais
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Infant
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Male
/
Newborn
Idioma:
En
Revista:
Pediatrics
Ano de publicação:
2023
Tipo de documento:
Article