儿童囊性纤维化并反复变应性支气管肺曲霉病伴咯血1例

Case report of allergic bronchopulmonary aspergillosis with hemoptysis in a child with cystic fibrosis

对2021年5月首都医科大学附属北京儿童医院呼吸一科收治的l例囊性纤维化(CF)并反复变应性支气管肺曲霉病(ABPA)伴咯血患儿的临床资料进行回顾性分析,结合国内外文献,分析儿童CF并发ABPA的临床特征及诊治原则。患儿,男,15岁4个月,以反复咳嗽、咳痰起病,血嗜酸性粒细胞增高,血清总IgE>500 IU/mL,烟曲霉特异性IgE及IgG阳性,肺部CT提示中心型支气管扩张,伴高密度黏液栓,最初诊断为ABPA。进一步查汗氯89 mmol/L,基因结果提示CFTR基因复合杂合突变(c.2909G>A,来自父亲;c.3310G>T,来自母亲),诊断为CF并发ABPA,临床予糖皮质激素及抗真菌治疗,停药后反复,出现大咯血后行右上肺叶切除术,术后2年再次出现ABPA,目前随访中。CF是一种少见的单基因遗传病,预后差。当CF患儿并发ABPA时,治疗难度大,易反复,早期识别及治疗有助于改善预后。

The clinical data of a cystic fibrosis(CF)child with allergic bronchopulmonary aspergillosis(ABPA)and hemoptysis in the Department of Respiratory DiseaseⅠ,Beijing Children′s Hospital,Capital Medical University in May 2021 were retrospectively analyzed.Meanwhile,relevant literature was reviewed to analyze the clinical characteristics,diagnosis and treatment of CF patients with ABPA.This patient was a 15 years and 4 months old boy and complained of recurrent cough with sputum.The test showed increased blood eosinophils,total serum IgE higher than 500 IU/mL,positive aspergillus fumigatus specific IgE and IgG antibodies.Chest CT revealed central bronchiectasis and high-density mucus thrombus,and the patient was initially diagnosed with ABPA.Further examinations suggested the sweat chloride concentration was 89 mmol/L,and the genetic results showed a compound heterozygous mutation of CFTR(c.2909G>A from his father,c.3310G>T from his mother).Then,he was diagnosed with CF complicated with ABPA and treated with glucocorticoid and antifungal therapy.The disease was repeated after drug withdrawal.Due to hemoptysis,the right upper lobe lobectomy was performed.Unfortunately,ABPA occurred again 2 years later.The child is being followed up at present.CF is a rare monogenetic disease with poor prognosis.It is difficult to treat CF patients with ABPA and the disease repeats easily.Early identification and treatment will improve the prognosis.