Encyclopedia of Health and Medicine

cystic fibrosis 121
• thick SPUTUM
• coughing and wheezing
• clubbing of the fingers and toes
• INTUSSUSCEPTION (a segment of the bowel “telescopes”
into another segment), a potentially
life-threatening circumstance
• RECTAL PROLAPSE
• nasal polyps
Men who have cystic fibrosis nearly always
have congenital bilateral absence of the vas deferens,
which results in INFERTILITY, though the TESTES
and other structures of the male sex organs function
normally.
The diagnostic path begins with a skin salt test
that measures the amount of chloride present on
the surface of the skin. In cystic fibrosis these levels
are five to six times normal; such a finding is
generally conclusive of a diagnosis of cystic fibrosis,
especially in combination with other characteristic
symptoms. A BLOOD or saliva test also can
confirm the presence of a cystic fibrosis mutation.
Other blood tests help to assess the level of damage
organ systems have experienced.
Treatment Options and Outlook
The most serious and common consequence of
cystic fibrosis is lung damage. Doctors may prescribe
ANTIBIOTIC MEDICATIONS to curtail infections,
mucolytic agents and mechanical methods such as
CHEST PERCUSSION AND POSTURAL DRAINAGE to help
thin secretions, and bronchodilator medications to
open the airways. An aerosol spray medication,
dornase alpha, uses enzymes to break up secretions
so the person can more easily COUGH them
up. Other treatments may include pancreatic
enzyme supplementation and high liquid consumption.
Cystic fibrosis is the leading reason for LUNG
TRANSPLANTATION, which is a treatment that
becomes necessary when the lungs can no longer
function. Some people who have severe cystic
fibrosis undergo simultaneous pancreas and lung
transplantation. Such surgery is extensive and
ORGAN TRANSPLANTATION requires lifelong IMMUNO-
SUPPRESSIVE THERAPY. These treatments are relatively
new, so doctors do not know their
long-term success. With appropriate medical management
some people who have cystic fibrosis can
live into at least midlife with relatively few significant
complications.
Risk Factors and Preventive Measures
Cystic fibrosis is an autosomal recessive disorder
acquired when each parent carries the gene mutation.
Preconception GENETIC SCREENING is the only
way to prevent parents from passing cystic fibrosis
to their children. Because the projected number of
cystic fibrosis carriers is so high (1 in 20 among
Caucasians of northern European ancestry), many
doctors offer cystic fibrosis screening to adults who
are planning families. Though researchers hope
GENE THERAPY may offer a cure for cystic fibrosis in
the future, such approaches are only in the early
stages of experimentation.
See also CARRIER; CYSTIC FIBROSIS AND THE LUNGS;
FAMILY PLANNING; GENETIC COUNSELING; GENETIC DISOR-
DERS; INFECTION; INHERITANCE PATTERNS; NASAL POLYP;
PATHOGEN; PNEUMONIA.