肺表面活性物质功能障碍障碍是由改变肺表面活性物质代谢的遗传缺陷引起的。它们是罕见的疾病并且在新生儿和儿科人群中引起显著的发病率和死亡率。
目的:描述临床,组织病理学,板层体的超微结构发现表明表面活性剂蛋白C(SP-C)功能障碍,在没有确证遗传研究的地方。
方法:我们报告了秘鲁一家儿科医院的三例肺表面活性物质功能障碍的儿科病例。所有病例均进行了视频辅助肺活检。层状体的超微结构研究与C型肺表面活性物质功能障碍相容。使用的治疗是甲基强的松龙脉冲每月六个月,然后每两个月,根据临床进展改变持续时间。他们还每天接受羟氯喹和阿奇霉素,每周三次。临床评估,眼底,超声心动图,心电图,和生物化学定期进行。在后续行动中,治疗效果良好,未观察到不良反应.尽管接受了治疗,但一例死亡。
结论:在3例C型表面活性物质功能障碍患者中,用皮质类固醇治疗,羟氯喹,阿奇霉素在其中2例成功。这是秘鲁报道的第一批有助于研究这些疾病的病例系列之一,特别是在低收入和中等收入国家。
Pulmonary surfactant dysfunction disorders are caused by genetic defects that alter pulmonary surfactant metabolism. They are rare disorders and cause significant morbidity and mortality in the neonatal and pediatric populations.
OBJECTIVE: To describe the clinical, histopathological, and ultrastructural findings of the lamellar body that suggest surfactant protein C (SP-C) dysfunction, where confirmatory genetic studies are not available.
METHODS: We report three pediatric cases of pul monary surfactant dysfunction disorders from a pediatric hospital in Peru. Video-assisted lung biop sy was performed in all cases. Ultrastructural studies of the lamellar body were compatible with type- C pulmonary surfactant dysfunction. The treatment used was methylprednisolone pulses monthly for six months, then every two months, varying the duration according to the clinical evolution. They also received daily hydroxychloroquine and azithromycin three times a week. Clinical evaluations, eye fundus, echocardiogram, electrocardiogram, and biochemistry were performed periodically. At follow-up, there was a good response to treatment and no adverse effects were observed. One
case died despite the therapies received.
CONCLUSIONS: In 3 patients with type-C surfactant dysfunction, treatment with corticosteroids, hydroxychloroquine, and azithromycin was successful in 2 of them. This is one of the first
case series reported in Peru that contributes to the study of these diseases, es pecially in low- and medium-income countries.