Download Basic Review of Cystic Fibrosis, Part 1

Objectives
• Review the causes of cystic fibrosis
(CF)
• Describe the symptoms and laboratory
findings in CF
• Review current and emerging CF
treatments
• Review expectations of quality of life
(QOL) for CF patients
• Look at current research in the area of
CF
By The Numbers
• Most common life-shortening disease in
the Caucasian population
– Frequency of 1 in 2000-3000 live births
• In the 1970’s, patients only survived into
their teens
• By 2006 advances in care extended
survival to 36 years
• In 2011 the median predicted survival for
patient in the United States was 36.8
years
The Genetics Of CF
• CF is caused by autosomal recessive
inheritance
The Genetics Of CF
• CF is caused by a mutation of the
cystic fibrosis transmembrane regulator
(CFTR) gene on Chromosome 7
– Most common mutation is delta F508
– CFTR can function as a chloride channel
• Over 1500 mutations have been
identified
– Typical panels only screen for 30 of these
mutations
CF Sweat Gland Pathophysiology
Cystic Fibrosis Pathophysiology
Organ(s)
Abnormality
Result
Pulmonary
Thick secretions
Infection
Chronic obstruction, infection
Pancreas
Deficiency of
pancreatic
enzymes, insulin
Malabsorption, malnutrition, CF
diabetes
Intestines
Thick secretions
Obstruction DIOS
Liver
Biliary cirrhosis,
fatty infiltration
Portal hypertension,
esophageal varices
Sweat glands
Unable to reabsorb Hyponatremia
sodium
Reproductive
Obstruction in male Azospermia, infertility
reproductive tract
CF Lung Pathophysiology
• Diminished host
defenses results in
chronic bacterial
infections of the
lung which results
in:
– Inflammation
– Infection
– Obstruction
• Common bacterial
pathogens:
– Pseudomonas
aeruginosa (most
common)
– Staphylococcus
aureus
– Haemophilus
influenzae
– Burkholderia
cepacia
Inflammation + Infection + Obstruction + Bacterial Toxins =
Impaired Gas Exchange
CF Gastrointestinal Pathophysiology
• Exocrine Insufficiency
– Due to obstruction of pancreatic ducts and
intestinal tract and their inability to digest
essential nutrients
– Newborns may present with meconium ileus
– Pancreatic enzyme insufficiency
• Trypsin, chymotrypsin, carboxypeptidase, amylase,
and lipase
– Fat soluble vitamin deficiency- A, D, E, K
– Malnutrition due to fat malabsorption
CF Gastrointestinal Pathophysiology
• Endocrine Insufficiency
– Typically onset occurs between 18-24
years
– Pancreatic malfunction can lead to insulin
deficiency
• Cystic Fibrosis Related Diabetes (CFRD)
– Approximately 25 percent of patients develop
CFRD by 20 years of age and up to 50 percent of
adults with CF have CFRD
– Typically presents with both type 1 and type 2
features
– Pancreas cannot meet carbohydrate demands
– High blood glucose following meals
Signs and Symptoms
Sinus/Pulmonary
• Nasal polyps
• Cough
• Increased sputum
production
• Recurrent pneumonia
• SOB
• Dyspnea
• Barrel chest
• Digital clubbing
Gastrointestinal/
Endocrine
• Meconium ileus
• Abdominal pain and
distension
• Nausea and vomiting
• Steatorrhea
• Malnutrition
• Hyperglycemia
• Salty skin