Internal Medicine

0521779407-C04 CUNY1086/Karliner 0 521 77940 7 June 14, 2007 20:37

452 Cystic Fibrosis

Cystic Fibrosis......................................

MICHAEL S. STULBARG, MD

REVISED BY ANDREA GLASSBERG, MD

history & physical

■Most common inherited disorder in Caucasians; may occur with any

ethnicity

■Autosomal recessive inheritance (chromosome 7); more than 800

genetic defects described, but delta F 508 most common.

■Recurrent episodes of cough and purulent sputum, often from

childhood; associated with minor hemoptysis, fatigue, weight loss;

diagnosis may not be suspected into adulthood

■S aureuspredominates early,P aeruginosa, usually mucoid, later;

other gram-negative rods (eg,Stenotrophomonas maltophilia,

Burkholderia cepacia) may become major pathogen

■Colonization withAspergillusand nontuberculous mycobacteria

common but usually not significant

■Associated conditions:

➣Pancreatic insufficiency with steatorrhea, weight loss

➣Diabetes mellitus, in about 20%

➣Sinusitis almost universal, may be dominant problem

➣Chronic diarrhea or constipation, sometimes with abdomi-

nal pain, nausea, vomiting (if severe=DIOS, distal intestinal

obstruction syndrome)

➣Abdominal pain common with increased incidence of gallstones

and pancreatitis, DIOS

➣Liver dysfunction common (ie, increased alkaline phosphatase);

liver failure rare (< 1%)

➣Azospermia almost uniform in men; women with decreased rates

of pregnancy

Signs & Symptoms

■Recurrent cough, purulent sputum, with or without precipitating

event; with progression, daily productive cough

■Chronic: symptoms like chronic bronchitis: chronic cough, dyspnea,

wheezing; yellow to green sputum, often with blood streaks

■Cachexia, respiratory distress, clubbing; abdomen may have fecal

masses, esp in right lower quadrant

■Mild: lungs may be clear

■Advanced: early crackles, esp in upper chest