Cystic Fibrosis
Alternative names for the disease:
Cystic fibrosis (CF)
Cystic fibrosis of the pancreas
Mucoviscidosis
Cystic fibrosis transmembrane conductance regulator
(CFTR)
Respiratory problems:
Chronic infections of the lungs
Emphysema
Progressive respiratory insufficiency
Gastrointestinal problems (including pancreas
and liver):
Pancreatic insufficiency (with no secretion of trypsin
and other digestive enzymes into the intestine)
Intestinal obstruction at birth (due to this lack
of digestive enzymes)
Continuing deficiency of pancreatic enzymes
Biliary tract obstruction (blockage of the bile system)
Constriction of the common bile duct
Cirrhosis of the liver (of the type called biliary
cirrhosis)
Recurrent episodes of pain in the right lower part
of the abdomen (mimicking appendicitis)
Adenocarcinoma of the ileum, a part of the small
intestine (a rare problem)
Heart problem:
Cor pulmonale (progressive overwork and failure of
the right side of the heart from the task of pumping blood through
the diseased lungs)
Reproductive problem:
Infertility of males
Laboratory findings:
Positive sweat test for CF (due to salty sweat)
Lack of trypsin in the stool (and high level of trypsin
in blood serum)
DNA testing for CF (demonstrates the presence of
the common delta-F508 codon deletion or one of the other variant
CF mutations)
Inheritance:
Autosomal disease (gene on an autosome, a non-sex
chromosome)
Boys and girls therefore have an equal chance of
CF
Recessive disease (one copy of the CF gene in the
presence of the normal paired gene does not result in CF)
Parents are carriers (each has one copy of the CF
gene but no symptoms)
Carrier parents, each with a CF gene, have 25% chance
of having a CF child with each pregnancy
The CF child has two CF genes; one from each parent
Molecular genetics:
CF gene has been located in chromosome region
7q31.2
CF gene has been isolated
CF gene(s) have been sequenced
CF is due to 1 common mutation (the delta-F508 codon
deletion) in the CF gene
CF can also be due to any 1 of many other (variant)
mutations in the CF gene
CF gene is concerned with transmembrane conductance
regulation
Diagnosis and Treatment:
Diagnosis of CF should be made as early as
possible.
Treatment of CF should start as early as possible
Much can be done medically to benefit a child (or
adult) with CF
Intestinal obstruction at birth can be relieved by
surgery
Pancreatic enzymes can be provided simply by mouth
Many respiratory problems can be prevented by good
pulmonary care
Respiratory infections can be promptly treated
No cure is yet available for CF
Cystic Fibrosis At A Glance
- Cystic fibrosis (CF) is one of the most common
serious genetic (inherited) diseases.
- CF gene is carried by 1/20 persons (in Caucasian
populations) and 1 in 400 couples is at risk for having children
with CF.
- CF is characterized by the production of abnormal
secretions leading to mucous build-up.
- CF mucous build-up can impair the pancreas and,
secondarily, the intestine.
- CF mucous build-up in lungs can impair
respiration.
- Early diagnosis of CF is of great importance.
- Early and continuing treatment of CF is
valuable.
For more information about Cystic Fibrosis,
please visit the following site:
Cystic Fibrosis Foundation (U.S.)
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Last Editorial Review: 4/15/2002