Age/Sex 22 / F
女性，22歲。
Chief Complaint：Cough and sputum for two days.
主訴：咳嗽咳痰兩日。
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）、肺結核（5年前）、肺NTM病（1年前）：膿腫分枝桿菌感染。
Diagnosis：Cystic fibrosis
診斷：肺囊性纖維化
影像學檢查：（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.
胸部正位片示在雙上肺野近胸膜2-3釐米處可見支氣管擴張、空腔病變伴纖維化改變。
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示雙上肺彌散性囊性支氣管擴張影，支氣管壁增厚，粘液堵塞和小葉中心結節。
The pattern of these lesions has bilateral symmetric distribution and upper lobe predominance.
病灶特徵為兩側對稱分布，以上葉為主。
Gene mutation analysis was done and CFTR gene mutation was detected.
對基因突變進行分析示CFTR基因突變。
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.
囊性纖維化是由囊性纖維化跨膜調節因子（CFTR）基因突變引起的，它會導致氣道內異常粘液分泌，使腔內阻塞、復發性支氣管炎症和感染。
Cystic fibrosis is the most common autosomal recessive disease in Caucasian, but it is very rare in nonwhites.
囊性纖維化是白種人最常見的常染色體隱性疾病，在非白種人中是非常罕見的。
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，表現為復發性呼吸感染，有排痰性咳嗽、喘息和呼吸困難症狀。
The basic abnormality consists of abnormal secretions from various exocrine glands including the salivary and sweat glands, pancreas, large bowel and tracheobronchial tree.
基本的異常：外分泌腺的異常分泌，包括唾液腺、汗腺、胰腺、大腸和氣管支氣管。
The treatment includes antibiotics, physiotherapy, and replacement of pancreatic enzyme for conservative purpose.
治療包括抗生素、物理療法和胰酶替代以達到保守目的。
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.
胸片檢查示：肺的中、小氣道有廣泛阻塞，肺部過度充氣，柱狀和囊性支氣管擴張，結節狀和指套狀的粘液栓塞。
CT findings of cystic fibrosis include cylindrical or cystic forms of bronchiectasis involving more severe in the upper lobes.
囊性纖維化CT表現包括柱狀或囊狀支氣管擴張，上葉為著。
Consolidation or atelectasis is noted in 80% of patient.
80%的病人伴肺實變或肺不張。
Cystic or bullous lesions are frequently presents in the subpleural regions of the upper lobes.
囊性或大皰性病變經常出現在上葉的胸膜下區域。
tree-in-bud pattern may be an early sign of disease. Air trapping on expiratory CT is also common.
樹芽徵可能是疾病的早期徵象。呼氣相CT上空氣滯留也較常見。
註：
NTM病：非結核分枝桿菌肺病
M.abscessus：膿腫分枝桿菌
肺囊性纖維化（CF）的發生與跨膜調節因子基因(CFTR)突變而直接導致銅綠假單孢菌感染有關。
併發症：如合併支氣管擴張時有反覆咯血，後期可以有發紺和杵狀指健康搜索往往合併肺源性心臟病及心力衰竭等嚴重併發症。
接下來會好好整理一下肺囊性纖維化病讓大家深度學習。
References
1. Muller NL, Silva CS. Imaging of the Chest. Saunders 2008: Vol2; 1039-1044
2. P. Farrell et al., Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report. J pediatr 2008;153:S4-S14
影像科急診必備手冊（36篇），必點收藏
全網最全頭顱影像解剖學，不容錯過（更新版）
全網最全 | 全身大關節影像解剖，不容錯過（更新版）
脊柱、脊髓解剖及常見疾病匯總（41篇）
鼎湖影像：專業醫學影像公眾號，歡迎關注
管理員微信：petmri
長按下方二維碼，關注我們呦