Symptoms and Diagnostic Path
The symptoms of cystic fibrosis vary according to
the body system first affected and usually appear
in childhood. Chronic productive COUGH, recurrent
bronchitis or pneumonia, and pronounced wheez-
ing are among the indications of pulmonary
involvement. The diagnostic path includes chest X-
rays and pulmonary function tests, which demon-
strate changes in lung structure and function
characteristic of cystic fibrosis. Other diagnostic
procedures look for nonpulmonary indications of
cystic fibrosis such as sinus disease, pancreatic dis-
ease, decreased BONE DENSITY, and INFERTILITY. Fam-
ily history of cystic fibrosis provides strong
suspicion of the diagnosis. A positive sweat chlo-
ride test and GENETIC TESTINGthat identifies cystic
fibrosis mutations. This provides conclusive diag-
nosis.
Treatment Options and OutlookTreatment requires close coordination to target
symptoms and disease developments across body
systems. Pulmonary treatment aims to keep the
airways as open as possible and to prevent infec-
tion, or treat infection early and aggressively.
IMMUNIZATIONto protect against CHILDHOOD DISEASES
such as PERTUSSIS(whooping cough), CHICKENPOX,
andMEASLESare crucial, as are annual INFLUENZA
immunizations (flu shots) and pneumonia vacci-
nation every five years at all ages. CHEST PERCUS-
SION AND POSTURAL DRAINAGEhelp clear the airways
of mucus accumulations. Though coughing is a
frustrating symptom, it is also an important func-
tion for removing mucus from the chest. Bron-
chodilators help improve functioning of the
airways and removal of mucus from them.
Moderate to high doses of the NONSTEROIDAL
ANTI-INFLAMMATORY DRUG (NSAID) ibuprofen (Advil
or Motrin) taken regularly may slow bronchial
inflammation and damage in many people, espe-
cially children. CORTICOSTEROID MEDICATIONSbecome
necessary when ibuprofen can no longer control
the inflammation or when inflammation becomes
widespread in the lungs. ANTIBIOTIC MEDICATIONS
become necessary to treat infections. People who
have cystic fibrosis commonly acquire antibiotic-
resistant bacteria, which may necessitate treat-
ment with more powerful intravenous antibiotics.
Inhaled antibiotic therapies are also becoming
available for treatment as well as prophylaxis (pre-
vention).
Cystic fibrosis has numerous nonpulmonary
complications that also require close attention.
Dysfunction of the PANCREASresults in malabsorp-
tion that may necessitate nutritional support. The
nature and severity of symptoms vary widely
among individuals. Cystic fibrosis is progressive,
however, and these treatments are only support-
ive. When they fail, bilateral LUNG TRANSPLANTATION
is the final, though high-risk, treatment option.Risk Factors and Preventive Measures
The only risk factor for cystic fibrosis is the reces-
sive gene mutation. Because this mutation is rela-
tively prevalent in the American population,
many people do not know they carry it until a
child develops the disease. Genetic testing and
GENETIC COUNSELINGmay be helpful for people who
have family histories of cystic fibrosis.
See also ANTIBIOTIC PROPHYLAXIS; ANTIBIOTIC RESIST-
ANCE; GENETIC DISORDERS; INHERITANCE PATTERNS;
ORGAN TRANSPLANTATION.diaphragm The thin, flat MUSCLEthat forms the
floor of the thoracic cavity (chest), establishing a
physical barrier between the thoracic cavity and
the abdominal cavity. Small openings in the
diaphragm allow structures such as the AORTA,
inferiorVENA CAVA, andESOPHAGUSto pass through.
The lower lobes of the LUNGSand the base of the
HEARTrest against the diaphragm. The diaphragm
attaches to the lower ribs and spine in the back,
then rises along the back of the ribs to dome for-
ward to form the base of the thoracic cavity. Con-
traction of the diaphragm tightens this dome,
pulling it downward to expand the thoracic cavity.
The diaphragm has two equal halves, each called a
hemidiaphragm, and is the primary muscle of
BREATHING.
Health conditions that can involve the
diaphragm include HIATAL HERNIA, in which weak-
ness in the musculature around the esophageal
opening allows the stomach to bulge upward
through the opening. Hiatal hernia typically
causes an uncomfortable burning sensation and
may result in regurgitating food or GASTROE-
SOPHAGEAL REFLUX DISORDER (GERD). HICCUPS are
muscle spasms of the diaphragm.202 The Pulmonary System