Notes on wikipedia article 2-2-13

2015-01-13

azim58 - Notes on wikipedia article 2-2-13

CF is caused by a mutation in the gene for the protein cystic fibrosis
transmembrane conductance regulator (CFTR)

CF is most common among Caucasians; one in 25 people of European descent
carries one allele for CF.

Individuals with cystic fibrosis can be diagnosed before birth by genetic
testing, or by a sweat test in early childhood. Ultimately, lung
transplantation is often necessary as CF worsens.

The hallmark signs and symptoms of cystic fibrosis are salty tasting
skin,[7] poor growth and poor weight gain despite a normal food
intake,[8] accumulation of thick, sticky mucus,[9] frequent chest
infections, and coughing or shortness of breath

Lung disease results from clogging of the airways due to mucus build-up,
decreased mucociliary clearance, and resulting inflammation

Individuals with CF may develop overgrowth of the nasal tissue (nasal
polyps) due to inflammation from chronic sinus infections.

clubbed fingers is a symptom

The lack of digestive enzymes leads to difficulty absorbing nutrients
with their subsequent excretion in the feces, a disorder known as
malabsorption.

In addition to the pancreas problems, people with cystic fibrosis
experience more heartburn, intestinal blockage by intussusception, and
constipation.

Exocrine pancreatic insufficiency

Liver disease is the third most common cause of death associated with CF.

This cystic fibrosis-related diabetes (CFRD) shares characteristics that
can be found in type 1 and type 2 diabetics, and is one of the principal
nonpulmonary complications of CF

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At least 97% of men with cystic fibrosis are infertile, but not sterile
and can have children with assisted reproductive techniques

autosomal recessive pattern of inheritance

In addition, there is increasing evidence that genetic modifiers besides
CFTR modulate the frequency and severity of the disease.

?F508-CFTR, which occurs in >90% of patients in the U.S., creates a
protein that does not fold normally and is degraded by the cell

salt, which is lost in high amounts in the sweat of individuals with CF.
This lost salt forms the basis for the sweat test.

chronic infections

measures for raised blood concentration of immunoreactive trypsinogen

sweat test

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Sweat-testing involves application of a medication that stimulates
sweating (pilocarpine).
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analyzed for abnormal amounts of sodium and chloride.
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CF can result from more than a thousand different mutations, and as of
2006 it is not possible to test for each one.

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While there are no cures for cystic fibrosis there are several treatment
methods.

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proactive treatment of airway infection, and encouragement of good
nutrition and an active lifestyle

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Intravenous, inhaled, and oral antibiotics are used to treat chronic and
acute infections.

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One of the most important battles that CF patients face is finding the
time to comply with prescribed treatments while balancing a normal life.

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Many CF patients are on one or more antibiotics at all times, even when
healthy, to prophylactically suppress infection.

side effects of antibiotics
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The aminoglycoside antibiotics (e.g. tobramycin) used can cause hearing
loss, damage to the balance system in the inner ear or kidney problems
with long-term use.

mechanical device to dislodge sputum

aerosols

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Lung transplantation often becomes necessary for individuals with cystic
fibrosis as lung function and exercise tolerance declines.
^I haven't heard of lung transplantation before
^a pancreas or liver transplantation might be performed at the same time

insulin injections used

preventing osteoporosis with vitamin D and calcium

counteract poor growth with feeding tube or growth hormone

In 2008, survival averaged 37.4 years

q
integrating an exercise regimen into the CF patient’s daily routine can
significantly improve the quality of life

epidemiology info
q
Cystic fibrosis is the most common life-limiting autosomal recessive
disease among people of Caucasian heritage.[97] In the United States,
approximately 30,000 individuals have CF; most are diagnosed by six
months of age.

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Approximately 1 in 25 people of European descent, and one in 30 of
Caucasian Americans,[99] is a carrier of a cystic fibrosis mutation.
^ this seems awfully high

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Ireland has the world's highest incidence of cystic fibrosis

it is still considered a rare disease

heterozygote advantage for cystic fibrosis?
-cholera requires CFTR proteins
-typhoid fever requires CFTR proteins
-protection against diarrhea caused by lactose intolerance
-possible resistance to tuberculosis

small molecule drugs to overcome stop codon

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