Cystic Fibrosis (CF)
Altered physiology
Clinical manifestations
Multi-system alterations in function
Treatment modalities
an autosomal recessive disorder of electrolytes and subsequently water transport that affects certain epithelial cells
most commonly affects Caucasians of European descent
most common lethal inherited disease in the group it affects
leads to the production of excessive and thick exocrine secretions which leads to
infection
inflammation
obstruction
caused by a mutation of the CF gene located on the long arm of chromosome 7
required on both inherited CFTR alleles
impaired electrolyte transportation across the epithelial cells on mucosal surfaces leads to thick secretions in
pancreas
gastrointestinal tract
respiratory tract
sweat glands
other exocrine tissues
most commonly associated with the mucous plugging, inflammation and infection in the lungs
mucous plugging is the formation of tenacious secretions which lead to
permanent lung damage
impairment of local immune function from infection
Presenting clinical manifestations depend on
Symptom severity
Rate of disease progression
Age at diagnosis
Associated with tenacious secretions leading to respiratory and gastrointestinal impairment
Clinical Manifestations
Gastrointestinal and Pancreas
Sweat glands
Respiratory
chronic cough accompanied with mucoid or purulent sputum
tachypnea
recurrent respiratory infections
recurrent wheezing or crackles
hemoptysis
dyspnea
chest pain
chest retractions
barrel chest
recurrent sinusitis
cyanosis
increased frequency of large, greasy, malodorous stools
distention
abdominal pain
poor absorption of fat soluble vitamins
weight loss
sweat abnormalities
excessive salt depletion
loss of appetite
Other
In males
undescended testicles
sterile
Sweat Glands
Respiratory
Pancreas and Gastrointestinal
Enzymes that are important for the breakdown of fats, proteins, and carbohydrates get blocked into tubes due to mucus obstruction
causes
inflammation
build up of enzymes
scarring
this scarring can lead to CF related diabetes
The CF gene that controls the movement of chloride and water is faulty
leads to
more sweat
high levels of chloride in sweat
not enough absorption of fats, proteins and carbohydrates
abnormal electrolyte transport causes cells in the respiratory system to absorb too much sodium and water
causes
secretions in the lungs to become very thick and hard to move
There is no cure for CF but treatment can ease symptoms
Treatments types
Goals of Treatment
Treating and preventing intestinal blockage
Removing and loosening mucus from the lungs
Providing adequate nutrition
Preventing and controlling infections that occur in the lungs
Medications
medications that target gene mutations
antibiotics
anti-inflammatory drugs
mucus-thinning drugs
bronchodilators
oral pancreatic enzymes
stool softeners
acid-reducing medications
drugs for diabetes or liver disease when needed
help improve function of the faulty CFTR protein and may improve lung function and weight, and reduce the amount of salt in sweat
Airway clearance techniques
Vest therapy
can relieve mucus obstruction
help to reduce infection and inflammation in airways
makes it easier to cough up mucus
other techniques to loosen and remove mucus
breathing and coughing techniques
tube that you blow into
clapping with cupped hands on the front and back of the chest
Pulmonary rehabilitation
may include
breathing techniques that may help loosen mucus and improve breathing
nutritional counseling
Physical exercise that may improve condition
counseling and support
education about condition
Surgical
Noninvasive ventilation
Feeding tube
Oxygen therapy
Bowel surgery
Nasal and sinus surgery
removal of nasal polyps that obstruct breathing
treat recurrent sinusitis
nasal polyps
improves oxygen intake to prevent high blood pressure in the lungs
a nose or mouth mask to provide positive pressure in the airways and lungs when breathing in
can increase air exchange in the lungs and decrease the work of breathing
helps with airway clearance
Lung transplant
Liver transplant
delivers extra nutrition
tube is inserted into the nose and guided into the stomach or tube may be surgically implanted in the abdomen
removes blockage in bowel
may be necessary if patient has
severe breathing problems
life-threatening lung complications
increasing resistance to antibiotics for lung infections
used for those with severe cystic-fibrosis liver disease