(autosomal recessive) of the most frequent (1: 2. 500 live births) in white populations, characterized by excessive thickening of the bronchial and
clinical management exquisite and the possibility of lung transplants have increased significantly the life expectancy of these patients.
So frequent that it is
an aspect of the
tract colonization by Pseudomonas aeruginosa,
bacterium that form films on the
of these patients that make it
impossible to eliminate. In fact the analysis of the genome of this organism
funded by the
It is an autosomal recessive, so that both parents must be carriers of the defective gene, and in this case the probability of having
, who may suffer (if the parent is
carrier) in 50% of cases, and pass it on the rest.
counseling may be important to prevent new cases.
Diagnosis and Treatment.
The diagnosis is made through the study of sweat, which presents an abnormal amount of
(although up to 2% of the cases this test is
Other evidence that may be needed are chest X - rays, bone and abdomen, and blood tests.
Intensive studies are being conducted with
therapies to overcome this
, at least in its facet of breath.
Today is chest physiotherapy and rehydration. Have also reported good results with lung transplantation.
Detection and treatment of
flare - ups with antibiotics.
Injections of vitamins
Need not be restricted outside the busiest periods, while carefully avoiding
Diet with plenty of water and
and low in fat.
Or symptoms of acute
is caused by
defect in the gene that encodes
, so this does not work.
Signs and symptoms.
In most cases, the
appears early in life. The organs most affected are the lungs and pancreas, although it affects all secretory glands of the body.
The manner of presentation is more frequent cough that becomes constant, with secrección of green and very viscous mucus.
The trend is for outbreaks, appearing episodes of significant deterioration to cede to the antibiotic treatment until the next time.
Little by little the worse lung
, which leads to
Sometimes it occurs after giving birth to
retention of mucus (Ileo meconium) which causes retention of stool, abdominal distension and vomiting.
The feature is the most typical digestive
insufficiency, which leads to poor digestion of fats and proteins:
with Coagulation) these vitamins to be absorbed with fat.
It is not often
despite the involvement of the exocrine pancreas.
Puberty is delayed, and the
had azoospermia (no sperm in the semen)
in women present about 20% of cases, even if they become pregnant after