Chua Wei Chard, Chen I-Chen, Liu Yi-Ching, Wu Yen-Hsien, Lo Shih-Hsing, Hsu Jong-Hau, Liang Peir-In, Chen Hsiu-Lin, Dai Zen-Kong
Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.
Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
Children (Basel). 2022 Sep 21;9(10):1435. doi: 10.3390/children9101435.
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.
儿童间质性肺疾病在病因和发病机制方面是一个多样化的群体。随着基因检测技术的进步，表面活性蛋白的突变现已被确定为儿童间质性肺疾病的病因，其发病时间和严重程度各不相同，从新生儿致命的急性呼吸窘迫综合征（RDS）到成人慢性肺病。我们报告了一名11个月大患有表面活性蛋白C缺乏症和继发性肺动脉高压的女孩，经羟氯喹成功治疗，并对临床、诊断方法及管理进行了详细讨论。
