Cystic Fibrosis

Etiology

Autosomal recessive disorder
Multisystem disease
Characterized by chronic bacterial infection
Affects chromosome 7

Pathophysiology

CFTR protein makes epithelial cells impermeable to chloride
Dehydration results in thick, viscous mucous gland secretions
Obstruction in lungs predisposes the lung to infection
In the pancreas, mucous blocks the channels that carry important enzymes to the intestines

Diagnostic Test: Genetic Screening

Prenatal: DNA analysis of oocytes
Newborns: genetic screening (chromosome 7)
1/2 of all infants present with failure to thrive

Diagnostic Test: Sweat Test

GOLD STANDARD
Positive test may not be diagnostic by itself

Sweat Test: Part 1

Pilacarpine is placed on skin
Electrode placed over chemical
Weak electric current applied to initiate sweating

Sweat Test: Part 2

Skin is cleaned
Sweat is collected on filter paper, plastic coil, or gauze
Measure amount of chloride in sweat

Diagnostic Test: Lung Function Test

Used to monitor lung function
Performed in individuals 6 or older

Diagnosis

1/2 of children with CF present in infancy
Symptoms: failure to thrive, compromised respiratory system, or both

Clinical features

Salty taste when kissed: caused from increased sodium and chloride concentrations in sweat
Foul smelling stools: blocked pancreatic ducts
Hyperglycemia
Rectal prolapse: due to thickened, dried, or impacted stools
Poor nutrition and weight loss
Chronic cough
Barrell chest and kyphosis
Hypoxia, clubbing, cyanosis
Exacerbation of pulmonary disease
Liver disease
Infertility
Amenorrhea
Muscle pain
Excessive kyphosis, neck, and back pain
Clubbing and painful periosteal new born formation
Increased incidence of Crohn’s

Prognosis

No cure
More than 50% live into adulthood
Males have better prognosis than females

Medical management

Depends on the stage of the disease
Transplantation: double lung
Supplemental oxygen
Pumping vest
Digestive tract medications
Reflux medications
Laxatives
Corticosteroids
Antibiotics

Role of PT (Chest/Breathing)

Percussion and postural drainage
Breathing techniques, segmental breathing

Role of PT (Exercise)

Includes strengthening, stretching, aerobic, and endurance components
Stretching of chest
Pelvic floor focus