What are the signs and symptoms of CF?
In lungs- incessant coughing, low exercise tolerance, copious phlegm production,
difficulties in breathing, coughing up blood, fungal and bacterial infections in
respiratory tract.
In GIT- meconium ileus in newborns, rectal prolapse, pancreatitis, frequent
greasy, bulky stools, constipation.
Other signs and symptoms- poor growth and weight gain, salty tasting skin,
clubbing of their fingers and toes, amenorrhea, azoospermia, teratospermia
What are the causes?
It is due to mutation in the gene cystic fibrosis transmembrane conductance
regulator (CFTR). Commonest mutation is deletion of three nucleotides that
results in a loss of the amino acid phenylalanine at the 508th position on the
protein.
What are the investigation methods?
Genetic tests
newborn screening
sweat testing
prenatal testing for parents and fetus,
What are the laboratory results in CF?
Raised blood concentration of immunoreactive trypsinogen.
Abnormal amounts of sodium and chloride.
What are the differential diagnoses?
Aspergillosis, bronchiectasis, bronchiolitis, asthma, pediatric celiac disease, short
stature, sinusitis.
What are the medications to treat CF?
Gene therapy, frequent airway clearance, bronchodilator treatments, chest
physical therapy and postural drainage, increased doses of mucolytics, antibiotics
like oral fluoroquinolones, pancreatic enzyme supplements, multivitamins, anti
inflammatory drugs.
What kind of nutrition & supplements are good for patients with CF?
High energy and high fat diet is recommended. Additionally fat soluble vitamins,
and minerals are given.
Regular exercises help CF patients to gain their physical fitness. Especially canoe
paddling improves respiratory muscles work more efficient.