1. Congenital Surfactant C Deficiency with Pulmonary Hypertension—A Case Report.
- Author
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Chua, Wei Chard, Chen, I-Chen, Liu, Yi-Ching, Wu, Yen-Hsien, Lo, Shih-Hsing, Hsu, Jong-Hau, Liang, Peir-In, Chen, Hsiu-Lin, and Dai, Zen-Kong
- 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 - 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]
- Published
- 2022
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