Discussion
Diagnosis With Brief Discussion
- Diagnosis
- Cystic fibrosis
- 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.
Chest CT demonstrates diffuse cystic bronchiectasis with thickening of the bronchial wall, mucus plugging and centrilobular nodules predominantly in both upper lung zones. The pattern of these lesions has bilateral symmetric distribution and upper lobe predominance.
Gene mutation analysis was done and CFTR gene mutation was detected. So, familiar study was also performed, her mother and brother were heterozygous carrier.
- Brief Review
- 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. Cystic fibrosis is the most common autosomal recessive disease in Caucasian, but it is very rare in nonwhites.
It presents obstructive pulmonary disease which manifest as recurrent respiratory infection associated with productive cough, wheezing, and dyspnea. The basic abnormality consists of abnormal secretions from various exocrine glands including the salivary and sweat glands, pancreas, large bowel and tracheobronchial tree. The treatment includes antibiotics, physiotherapy, and replacement of pancreatic enzyme for conservative purpose.
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.
CT findings of cystic fibrosis include cylindrical or cystic forms of bronchiectasis involving more severe in the upper lobes. Consolidation or atelectasis is noted in 80% of patient. Cystic or bullous lesions are frequently presents in the subpleural regions of the upper lobes. Branching or nodular centrilobular opacity, so called tree-in-bud pattern, may be an early sign of disease. Air trapping on expiratory CT is also common.
- Please refer to
Case 238, Case 503, Case 653, -
- 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
- Keywords
- Airway, Lung, Non-infectious inflammation,