Lung disease in Niemann-Pick disease
Lung disease in Niemann-Pick disease
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DOI：
10.1002/ppul.20725
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发表时间：
2007-12-01
影响因子：
3.1
通讯作者：
Fauroux, Brigitte
中科院分区：
文献类型：
--
作者：
Guillemot, Nathalie;Troadec, Corinne;Fauroux, Brigitte
背景：尼曼-匹克病患儿肺部受累的系统研究较少。目的：探讨尼曼-匹克病患儿的肺部受累情况及支气管肺泡灌洗的价值。设计：对患者病历进行回顾性分析。患者：13例患者，其中A型1例，B型10例，C型2例，年龄2个月~9岁。研究干预：通过临床评估、胸部X线片、肺部CT扫描、肺功能测试和支气管肺泡灌洗液分析评估肺受累。结果：10例患者在确诊时出现呼吸道症状，其余3例患者在随访过程中出现呼吸道症状。所有患者在胸部X线片和肺部CT扫描上均有间质性肺疾病征象。支气管肺泡灌洗液分析(n=7)显示所有患者都有明显的泡沫巨噬细胞(Niemann-Pick细胞)聚集。随访时，1例患者死于呼吸衰竭，5例患者需要长期氧疗，7例患者出现慢性阻塞性肺疾病(n=6)或慢性咳嗽(n=1)。结论：本研究包括的所有患者均有肺部疾病，支气管肺泡灌洗可通过显示特征性Niemann-Pick细胞的存在而有助于Niemann-Pick病的治疗。
Background: Lung involvement in children with Niemann-Pick disease has rarely been studied systematically Objective: To assess the involvement of the lung and the value of bronchoalveolar lavage in children with Niemann-Pick diseases. Design: Retrospective analysis of patient records. Patients: Thirteen patients, with type A (n = 1), type B (n = 10), and type C (n = 2) Niemann-Pick disease, aged 2 months to 9 years at diagnosis, were included in the study Interventions: Lung involvement was assessed by clinical evaluation, chest radiograph, lung computed tomography (CT) scan, pulmonary function tests, and bronchoalveolar lavage fluid analysis. Results: Respiratory symptoms were present at diagnosis in 10 patients and developed during follow up in the three other patients. All patients showed signs of interstitial lung disease on chest X-ray and lung CT scan. Bronchoalveolar lavage fluid analysis (n = 7) revealed a marked accumulation of foamy macrophages (Niemann-Pick cells) in all patients. At follow up, one patient died of respiratory failure, five patients required long term oxygen therapy and seven other patients presented a chronic obstructive pulmonary disease (n = 6) or chronic cough (n = 1). Conclusion: Lung disease was observed in all the patients included in the present study Bronchoalveolar lavage may be useful in Niemann-Pick diseases by showing the presence of characteristic Niemann-Pick cells.