Cystic Fibrosis, Pancreatitis, Diabetes

  Cystic Fibrosis is caused by a mutation in a gene called
the cystic fibrosis transmembrane conductanceregulator
(CFTR). This gene helps create sweat, digestive juices, and
mucus. Although most people without Cystic Fibrosis have two
working copies of the CFTR gene, only one is needed to prevent
cystic fibrosis. develops when neither gene works normally.
Therefore, Cystic Fibrosis is considered an autosomal recessive
disease. The name cystic fibrosis refers to the characteristic
scarring (fibrosis) and cyst formation within the pancreas, first
recognized in the 1930s.

Gastrointestinal, Liver and Pancreatic disease

Prior to prenatal and newborn screening, cystic fibrosis was often
diagnosed when a newborn infant failed to pass feces
(meconium). Meconium may completely block the intestines and
cause serious illness. This condition, called meconium ileus,
occurs in 10% of newborns with cystic fibrosis. In addition,
protrusion of internal rectal membranes (rectal prolapse) is more
common in cystic fibrosis because of increased fecal volume,
malnutrition, and increased intra–abdominal pressure due to
coughing.

The thick mucus seen in the lung has its counterpart in thickened
secretions from the pancreas, an organ responsible for providing
digestive juices which help break down food. These secretions
block the movement of the digestive enzymes into the gut and
result in irreversible damage to the pancreas, often with painful
inflammation (pancreatitis). The lack of digestive enzymes leads
to difficulty absorbing nutrients with their subsequent excretion in
the feces, a disorder known as malabsorption. Malabsorption
leads to malnutrition and poor growth and development because
of calorie loss. Individuals with Cystic Fibrosis also have
difficulties absorbing the fat-soluble vitamins A, D, E, and K. In
addition to the pancreas problems, people with cystic fibrosis
experience more heartburn, intestinal blockage by
intussusception, and constipation. Older individuals with Cystic
Fibrosis may also develop distal intestinal obstruction syndrome
when thickened feces cause intestinal blockage.

Thickened secretions also may cause liver problems in patients
with cystic fibrosis. Bile secreted by the liver to aid in digestion
may block the bile ducts, leading to liver damage. Over time, this
can lead to cirrhosis, in which the liver fails to clean the blood of
toxins and does not make important proteins such as those
responsible for blood clotting.

       Endocrine Disease and Growth
Patients with cystic fibrosis often have enlargement on their
fingers. (Clubbing)
The pancreas contains the islets of Langerhans, which are
responsible for making insulin, a hormone that helps regulate
blood glucose.

         Damage of the pancreas
Can lead to loss of the islet cells, leading to diabetes. Vitamin D is
involved in calcium and phosphorus regulation. Poor uptake of
vitamin D from the diet because of malabsorption leads to the
bone disease osteoporosis in which weakened bones are more
susceptible to fractures. In addition, people with cystic fibrosis
often develop clubbing of their fingers and toes due to the effects
of chronic illness and low oxygen on their bones.

                Poor growth cycles
Are hallmarks of cystic fibrosis. Children with cystic fibrosis
typically do not gain weight or height at the same rate as their
peers and occasionally are not diagnosed until investigation is
initiated for poor growth. The causes of growth failure are multi–
factorial and include chronic lung infection, poor absorption of
nutrients through the gastrointestinal tract, and increased
metabolic demand due to chronic illness.

         Cystic Fibrosis Carrier Testing
You may want to check whether you are a cystic fibrosis carrier,
If you have a family history of cystic fibrosis.
If you are a partner of someone with cystic fibrosis
If you are a planning a pregnancy

      A Relative With CF (Your Carrier Risk)

Parent or child - Risk 100%

Siblings - Risk 67%

Niece or nephew - Risk 50%

Aunt or uncle - Risk 33%

Cousin - Risk 25%

**Some of the content on this page was obtained from the Wikipedia and is therefore licensed under the GNU Free
Documentation License.