ANATOMY OF CYSTIC FIBROSIS

Cystic Fibrosis is an inherited disorder that can lead to a

variety of clinical manifestions. In an attempt to better
understand the pathology of this disorder it is important to
analyze the specific anatomical structures that will be
impacted by this disease process.

 Bronchioles - Obstructed secondary to the thickened mucus

adhering to the walls of the airways.
 Small intestine - distal obstruction (meconium ileus)
 Pancreatic duct - Obstruction
 Bile ducts - Obstruction

 Male reproductive organs - absent or obstructed vas

deferens
 Female reproductive organs - cervical canal obstructed by
thickened mucus
 Musculoskeletal system:

- Inspiratory muscle atrophy

- weakness/atrophy in anti- gravity muscles such as the

gastrocnemius

- Kyphosis of the spine resulting in neck and back pain

Mechanism of Injury / Pathological Process

Cystic fibrosis (CF) is the most frequent cause of

suppurative lung disease in the younger Caucasian
population. A depleted volume of the airway surface liquid
(ASL) layer in the respiratory system leads to abnormal
mucociliary clearance [2] . A chronic cycle of infection and
inflammation results in progressive suppurative
bronchiectasis and lung damage.
Cystic Fibrosis is an inherited disease of the mucus and
sweat glands (exocrine glands) affecting mostly the lungs,
liver, pancreas and intestines (Medline Plus, 2009). It
causes damage to lung tissue, inflammation, and acute
susceptibility to bacterial infections. There is an abnormal
gene, called Cystic Fibrosis Transmembrane Conductance
Regulator (CFTR), which results in the production of thick,
sticky mucus which blocks the airways in the lungs
resulting in frequent lung infection. The thick mucus also
blocks the ducts in the pancreas which in turn blocks
digestive pancreatic enzymes from reaching the small
intestine and performing their normal function.

The degree of mutation of the CFTR gene determines the

type of complications that will arise and these will differ
from person to person. According to (Wikipedia, 2009) the
mutated or defected protein attaches to the outer
membrane of cells in sweat glands, lungs, pancreas and
other affected organs. This protein spans over the
 membrane which acts as a channel connecting the inner
part of the cell cytoplasm to the surrounding fluid. This
channel is important in our airways because it controls the
movement of chloride from the inside to the outside of
the cell. Chloride moves from the sweat into the
cytoplasm but due to the mutation of the CFTR protein,
the chloride is trapped inside the cells of the airway and
outside the skin. Chloride is a negatively charged ion and
sodium is a positively charged ion, so this leads to an
electrical attraction, which results in the formation of salt.
In CF patients a high amount of salt is lost in sweat, thus
forming the basis of the sweat test.

There are 3 theories:

 1) The lack of chloride exodus through the CFTR protein
leads to the accumulation and an increase in the viscosity
of the nutrient-rich mucus in the lungs leading to bacteria
hiding from the body’s immune system.
 2) There is a paradoxical increase in the sodium and
chloride uptake due to the CFTR protein defect. This cause
an increase in the water reabsorption which leads to thick
and dehydrated mucus.
 3) This theory focuses on abnormal chloride movement
out of the cell which leads to dehydrated mucus,
pancreas, secretion, biliary secretion etc

These theories propose that the major damage in patients

with CF is due to the blockage of narrow passages of the
affected organs due to thick secretions. The blockage
within the lung airways leads to infections because of the
accumulation of the enzymes and blockages of the
passages.