Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Nanlishi Road 56, Xicheng District, Beijing, China.
Imaging Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Nanlishi Road 56, Xicheng District, Beijing, China.
Orphanet J Rare Dis. 2017 Oct 26;12(1):169. doi: 10.1186/s13023-017-0719-9.
Dry cough, dyspenea and diffuse centrilobular nodules in both lungs of radiologic findings similar to hypersensitivity pneumonitis (HP) are rare initial presentation in chronic granulomatous disease (CGD). CGD is remarkable for increased susceptibility to bacterial and fungal infections as well as high sensitivity to inciting antigens such as Aspergillus species due to dysregulated inflammation. We identified three children who had an initial presentation mimicking HP and were subsequently diagnosed as CGD. All patients developed invasive pulmonary A. fumigatus infection (IPAI) following systemic glucocorticoid therapy. Two of the three patients were found to have mutations in NCF1 gene and one patient in NCF2 gene. As HP is uncommon in children, we should consider the possibility of CGD in children with HP, even in mimicking HP patients with suggestive inhalation history and negative fungal cultures. A prompt diagnosis of CGD is essential to enable initiation of prophylactic antibacterial and antifungal therapies.
肺部影像学表现为干咳、呼吸困难和弥漫性中心性结节，类似于过敏性肺炎（HP），在慢性肉芽肿病（CGD）中较为罕见。CGD 的特点是易受细菌和真菌感染，以及对激发抗原（如曲霉属物种）的高敏感性，这是由于炎症失调所致。我们发现了三个最初表现为类似 HP 的儿童，并随后被诊断为 CGD。所有患者在接受全身糖皮质激素治疗后均发生侵袭性肺烟曲霉感染（IPAI）。这三个患者中的两个被发现存在 NCF1 基因突变，一个患者存在 NCF2 基因突变。由于儿童中 HP 较为罕见，我们应考虑儿童中 CGD 的可能性，即使是在具有提示性吸入史和阴性真菌培养的类似 HP 患者中。及时诊断 CGD 对于启动预防性抗菌和抗真菌治疗至关重要。
