PDF(Pubmed)
Abstract：
BACKGROUND: Pulmonary alveolar proteinosis (PAP) and X-linked agammaglobulinemia (XLA) are rare diseases in children. Many theories infer that immunodeficiency can induce PAP, but these reports are almost all review articles, and there is little clinical evidence. We report the case of a child with both PAP and XLA.
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.
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.
摘要：
背景：肺泡蛋白沉积症（PAP）和X连锁无丙种球蛋白血症（XLA）是儿童的罕见疾病。许多理论推断免疫缺陷可以诱导PAP，但是这些报告几乎都是评论文章，几乎没有临床证据.我们报告了同时患有PAP和XLA的儿童的病例。
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。
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。
