Joel Thompson, MSIIINovember 13, 2008

And Now, Your History…

18 yo F with “Cough increased known *pulmonary disease* patient”

What primary chronic pulmonary diseases commonly affect the pediatric population?

What chronic pulmonary diseases with clinically significant extra-pulmonary manifestations commonly affect the pediatric population?

CXR11/11/08

CXR11/11/08

CXR10/30/07

CXR10/30/07

And The Diagnosis…Cystic FibrosisMutation to CFTR on chromosome 17 that results in

malfunction to varying degreesResults in thick mucus secretions that tend to obstruct

hollow secretory structures (bile and pancreatic ducts, airways, bowel, sinuses, vas deferens/fallopian tubes, etc.)

Can lead to chronic bronchitis-type pulmonary disease, chronic rhinosinusitis, chronic pancreatitis/pancreatic failure, meconium ileus/SBO, biliary cirrhosis/cholelithiasis, infertility, poor bone mineralization, HPOA

Airways become colonized by bacteria, most commonly Staph aureus, H. influenzae, and P. aeruginosa—chronic lung infections that are frequently resistant to treatmentDue to both genetic resistance and difficulty of delivering

sufficient concentrations of antibiotics through thick mucus

Katkin, Julie P. “Clinical manifestations and diagnosis of cystic fibrosis.” Uptodate.com. Accessed November 12, 2008.

Role of radiographyLung disease is the most common cause of CF-

related morbidity and mortality—diagnosis, recognition, and follow-up for progression are paramount!

Findings on CXR include hyperinflation (earliest sign), prominent bronchovascular markings (upper lobes first), peribronchial cuffing (bronchiectasis), cyst formation (late), kyphosis (late), flattened diaphragm (late), PTX (late)In advanced stages, CXR may not correlate with

clinical changesCT—can define extent of bronchiectasis (if focal,

may be resectable)

Katkin, Julie P. “Clinical manifestations of pulmonary disease in cystic fibrosis.” Uptodate.com. Accessed November 12, 2008.