|
病史 Age/Sex 22 / F 女性，22岁。 Chief Complaint：Cough and sputum for two days. 主诉：咳嗽咳痰两日。 Past history: Pneumonia (21years ago), Pulmonary TB (5years ago), Pulmonary NTM disease (1 year ago) : M.abscessus 既往史：肺炎（21年前）、肺结核（5年前）、肺NTM病（1年前）：脓肿分枝杆菌感染。 诊断 Diagnosis：Cystic fibrosis 诊断：肺囊性纤维化 影像学检查 影像学检查：（Radiologic Findings） On chest radiography, there are bronchiectasis and cavity lesions with fibrotic change in the both upper lung zones, located within 2-3cm of the pleura. 胸部正位片示在双上肺野近胸膜2-3厘米处可见支气管扩张、空腔病变伴纤维化改变。 Chest CT demonstrates diffuse cystic bronchiectasis with thickening of the bronchial wall, mucus plugging and centrilobular nodules predominantly in both upper lung zones. 胸部CT示双上肺弥散性囊性支气管扩张影，支气管壁增厚，粘液堵塞和小叶中心结节。 The pattern of these lesions has bilateral symmetric distribution and upper lobe predominance. 病灶特征为两侧对称分布，以上叶为主。 Gene mutation analysis was done and CFTR gene mutation was detected. 对基因突变进行分析示CFTR基因突变。 疾病概述： Cystic fibrosis is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations which causes abnormal mucus formation in the airway, leading to luminal obstruction and recurrent bronchial inflammation and infection. 囊性纤维化是由囊性纤维化跨膜调节因子（CFTR）基因突变引起的，它会导致气道内异常粘液分泌，使腔内阻塞、复发性支气管炎症和感染。 Cystic fibrosis is the most common autosomal recessive disease in Caucasian, but it is very rare in nonwhites. 囊性纤维化是白种人最常见的常染色体隐性疾病，在非白种人中是非常罕见的。 It presents obstructive pulmonary disease which manifest as recurrent respiratory infection associated with productive cough, wheezing, and dyspnea. 阻塞性肺部疾病，表现为复发性呼吸感染，有排痰性咳嗽、喘息和呼吸困难症状。 The basic abnormality consists of abnormal secretions from various exocrine glands including the salivary and sweat glands, pancreas, large bowel and tracheobronchial tree. 基本的异常：外分泌腺的异常分泌，包括唾液腺、汗腺、胰腺、大肠和气管支气管。 The treatment includes antibiotics, physiotherapy, and replacement of pancreatic enzyme for conservative purpose. 治疗包括抗生素、物理疗法和胰酶替代以达到保守目的。 Chest radiography reveals extensive obstruction of medium-sized and small airways of the lungs, hyperinflation, cylindrical and cystic bronchiectasis, nodular and fingerlike shadows of mucoid impaction. 胸片检查示：肺的中、小气道有广泛阻塞，肺部过度充气，柱状和囊性支气管扩张，结节状和指套状的粘液栓塞。 CT findings of cystic fibrosis include cylindrical or cystic forms of bronchiectasis involving more severe in the upper lobes. 囊性纤维化CT表现包括柱状或囊状支气管扩张，上叶为著。 Consolidation or atelectasis is noted in 80% of patient. 80%的病人伴肺实变或肺不张。 Cystic or bullous lesions are frequently presents in the subpleural regions of the upper lobes. 囊性或大疱性病变经常出现在上叶的胸膜下区域。 tree-in-bud pattern may be an early sign of disease. Air trapping on expiratory CT is also common. 树芽征可能是疾病的早期征象。呼气相CT上空气滞留也较常见。 注： NTM病：非结核分枝杆菌肺病 M.abscessus：脓肿分枝杆菌 肺囊性纤维化（CF）的发生与跨膜调节因子基因(CFTR)突变而直接导致铜绿假单孢菌感染有关。 并发症：如合并支气管扩张时有反复咯血，后期可以有发绀和杵状指健康搜索往往合并肺源性心脏病及心力衰竭等严重并发症。 接下来会好好整理一下肺囊性纤维化病让大家深度学习。 References 1. Muller NL, Silva CS. Imaging of the Chest. Saunders 2008: Vol2; 1039-1044 |
|
|
来自： zskyteacher > 《呼吸（包括心胸）》
