METHODS: A 4-month-old boy sought medical treatment due to coughing and difficulty in breathing for > 2 wk. He had been hospitalized multiple times due to respiratory infections and diarrhea. Chest computed tomography and alveolar lavage fluid showed typical PAP-related manifestations. Genetic testing confirmed that the boy also had XLA. Following total lung alveolar lavage and intravenous immunoglobulin replacement therapy, the boy recovered and was discharged. During the follow-up period, the number of respiratory infections was significantly reduced, and PAP did not recur.
CONCLUSIONS: XLA can induce PAP and improving immune function contributes to the prognosis of children with this type of PAP.
方法:一个4个月大的男孩因咳嗽和呼吸困难而寻求治疗超过2周。他因呼吸道感染和腹泻多次住院。胸部计算机断层扫描和肺泡灌洗液显示典型的PAP相关表现。基因测试证实该男孩也患有XLA。全肺泡灌洗和静脉注射免疫球蛋白替代疗法后,男孩康复并出院。在后续期间,呼吸道感染的数量大大减少,PAP没有复发。
结论:XLA可诱导PAP,改善免疫功能有助于此类PAP患儿的预后。