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Congenital Surfactant C Deficiency with Pulmonary Hypertension—A Case Report.
- Source :
- Children; Oct2022, Vol. 9 Issue 10, p1435-N.PAG, 7p
- Publication Year :
- 2022
-
Abstract
- Interstitial lung diseases in children are a diverse group in terms of etiology and pathogenesis. With advances in genetic testing, mutations in surfactant protein have now been identified as the etiology for childhood interstitial lung disease of variable onset and severity, ranging from fatal acute respiratory distress syndrome (RDS) in neonates to chronic lung disease in adults. We presented an 11-month-old girl with surfactant protein C deficiency and secondary pulmonary hypertension, successfully treated with hydroxychloroquine, and provided a detailed discussion of the clinical and diagnostic approach and management. [ABSTRACT FROM AUTHOR]
- Subjects :
- DIAGNOSIS of neonatal diseases
PULMONARY hypertension diagnosis
PHYSICAL diagnosis
PULMONARY surfactant
GENETIC mutation
FEVER
BLOOD gases analysis
CHEST X rays
BRONCHOALVEOLAR lavage
SEQUENCE analysis
PULMONARY hypertension
DEFICIENCY diseases
GENETIC testing
BETAMETHASONE
INTERSTITIAL lung diseases
COUGH
CYANOSIS
HYDROXYCHLOROQUINE
COMPUTED tomography
AZITHROMYCIN
FAILURE to thrive syndrome
BRONCHOSCOPY
DISEASE complications
CHILDREN
Subjects
Details
- Language :
- English
- ISSN :
- 22279067
- Volume :
- 9
- Issue :
- 10
- Database :
- Complementary Index
- Journal :
- Children
- Publication Type :
- Academic Journal
- Accession number :
- 159903158
- Full Text :
- https://doi.org/10.3390/children9101435