Recessive disorder common among Caucasians

cystic fibrosis. There are eleven references used for this paper.

There are a number of fatal diseases which a person can be born with in the world today. One of the most debilitating is Cystic Fibrosis. It is important to examine its history, symptoms, diagnostic procedures, treatments and prognosis in order to gain a better understanding of this disease.

Cystic fibrosis is a “recessive disorder common among Caucasians. Although the disease was known in the 1930’s, it was only in the late 1980’s that the molecular mechanisms about its development were established (Tsui).” In the United States, “one in 2500 people in the general population is born with cystic fibrosis (”

Cystic fibrosis is sometimes referred to as ’65 roses.’ This nickname “came from a little boy who overheard his mom talking about the condition on the phone. He thought that each time his mom said ‘cystic fibrosis,’ she was talking about 65 roses (”

Occurrence of Cystic Fibrosis

In the United States, in “Caucasians with cystic fibrosis:

50% have two copies of ?F508 (the most common mutation)

40% have one copy of the deletion and one other mutation.

10% do not have the ?F508 deletion.

In cystic fibrosis carriers of other ethnic backgrounds, the ?F508 deletion is present in:

45% of Italians

30% of African-Americans

30% of Ashkenazi Jews (”


Cystic fibrosis presents with a number of symptoms. These symptoms can “include:

No meconium stool in first 24 hr. Of life

Stools, pale or clay colored and foul smelling

Stools – floating

Skin may taste salty (infants)

Persistent respiratory infections such as pneumonia

Coughing or wheezing

Weight loss

Clubbing of the fingers or toes


Delayed growth

Easy fatigue

Splenomegaly (”

Causes of Symptoms

Meconium is a “black, tarry stool-like substance that comes out soon after birth, within the first few days of life (” When a baby is unable to expel this meconium due to a blockage in the bowel, it is referred to as a Meconium Ileus. In a baby with cystic fibrosis, the meconium may not be expelled, “due to the intestinal secretions causing a blockage. Meconium Ileus occurs in approximately 15% of the cases, is a very serious condition, and requires surgery to eliminate the problem within a few hours, or the baby will not survive (”

Patients with cystic fibrosis may not be able to “digest their food correctly due to pancreatic insufficiency, resulting in the production of greasy, bulky, foul-smelling stools (”

Cystic fibrosis may cause a condition known as ‘Failure to Thrive’, during which a child is unable to “gain weight or grow in height normally (”

Patients with cystic fibrosis may experience reoccurring lung and sinus infections, and have a large amount of secretions in the respiratory system. The formation of secretions occurs when the patient is “unable to clear them because they are thick, and often infected (” These chronic respiratory infections may cause the patient to cough frequently, and patients who also suffer from asthma may experience wheezing.

Sufferers may have nasal congestion from “chronic sinusitis and/or polyps, with nasal polyps requiring surgery.

The patient may be infected with Pseudomonas aeruginosa or Burkholderia cepacia. Bad, or foul-smelling breath may be noticed, that no amount of teeth brushing or breath fresheners can get rid of, usually due to respiratory (lung and/or sinus) infections, such as Pseudomonas aeruginosa, but may also be due to improper digestion (”

The basic symptom is “salty sweat. The patient may also dehydrate easily, find it difficult to gain weight due to malabsorption and fighting infection, experience stomach aches, and have vitamin or mineral deficiency due to malabsorption, especially Vitamin K (”


In the past 10 years there have been a number of advances in the diagnosis of cystic fibrosis due to research in molecular biology and genetics.

Early diagnosis “of the disease not only can lead to the most appropriate medical management of the patient but also allows for genetic counseling and pulmonary surveillance (Andolsek).”

The “traditional diagnostic criteria for cystic fibrosis include the following: persistently elevated concentrations of electrolytes in sweat along with characteristic clinical findings (such as typical gastrointestinal or pulmonary disease and perhaps obstructive azoospermia) or a family history (Andolsek).”

Sweat testing is the main diagnostic tool used to determine classic cystic fibrosis, however additional tests must be utilized to determine atypical forms of cystic fibrosis.

Complications in Diagnosis

There may be complications in diagnosing patients with an atypical form of the disease, including “patients who present with cystic fibrosis late in childhood or in adulthood. These patients may lack characteristic gastrointestinal and pulmonary symptoms, and may have less widely known complications such as pancreatitis, congenital absence of the vas deferens and nasal polyps (Andolsek).”

Additional Diagnostic Tests

Health care practitioners may administer a number of additional tests in order to determine cystic fibrosis. These tests can include “sweat testing, genotyping, semen analysis, sinus radiographs, tests of exocrine pancreatic function, nasal potential-difference measurements, and bronchoalveolar lavage. The correlation of the genotype with phenotype, as well as rational use of clinical signs and laboratory tests is used to both diagnose and rule out cystic fibrosis (Andolsek).”

The “encoded gene product known as the cystic fibrosis transmembrane conductance regulator (CFTR) has been identified through gene mapping and cloning techniques. Studies have shown however, that CFTR mutations are more profound than cystic fibrosis alone by inducing pancreatic disorder (Tsui).”

In conditions of single gene disorders such as cystic fibrosis, “the chromosomes, or karyotype, are expected to be normal, 46, XX or 46, XY and therefore, chromosome studies are not recommended for these patients (”

Understanding Cystic Fibrosis

While most people are able to breath without difficulty, and rarely even think about the act, those suffering from cystic fibrosis find it an almost daily struggle. “Thick, gooey mucus clogs the lungs of most people with the disease and serves as a breeding ground for bacteria. Chronic infections lead to respiratory failure – typically caused by the usually harmless bacterium called Pseudomonas aeruginosa – which kills most people with cystic fibrosis while they are in their 20s or early 30s. This suggests that either the lungs of cystic fibrosis patients are particularly hospitable to bacteria or normal defenses against infection are somehow weakened (Damaris).”

There are currently more than 30,000 cystic fibrosis patients in the United States, and more than “12 years after researchers identified the mutated gene responsible for the disease, scientists are still struggling to determine how its function relates to the pathology of cystic fibrosis (Damaris).”

Family History and Carriers

Cystic fibrosis is “a hereditary disease. To inherit cystic fibrosis, two abnormal genes, one from each parent are passed on. Genetic testing can show whether a person carries the common gene changes known to cause cystic fibrosis by analyzing DNA from a small amount of cells or blood (” The easiest methods of collecting cells for genetic testing are using a cheekbrush kit to obtain cells from the mouth or drawing a blood sample. The DNA “from these cells can be isolated and used in the laboratory to test for the presence of cystic fibrosis gene mutations (”

While it is important for anyone who has a family history of cystic fibrosis to be tested as a carrier, “80% of children with cystic fibrosis are born to parents with no prior history of the disease. Testing can detect about 80-90% of the carriers of cystic fibrosis. While testing may not be able to provide complete information on carrier status for all individuals, if a person is found to have a mutation then he or she is a carrier, and if there is not identifiable mutation, the chance of being a carrier is much less, but not zero (”

In patients who have a “family history of cystic fibrosis, it is best to test the person with cystic fibrosis first and determine which mutations her or she has. Relatives can then be tested to see if they carry the same mutation. If a close relative does not have these same mutations, the chance for them to be a carrier is quite small (”

Changes in the Body

The body of a patient who has cystic fibrosis undergoes a number of changes. Each gene has its own specific DNA code, which defines the gene’s role. DNA is composed of “four building blocks called bases. These bases are joined in a specific order for each gene, and when a change occurs in the arrangement of the bases, it can cause the gene not to work properly. A structural gene change which can cause a disease or a birth defect is called a mutation (” As previously noted, a person with cystic fibrosis inherits the mutated cystic fibrosis gene from each parent. This mutated gene is large, and currently there are “over 700 cystic fibrosis mutations know, most of which are very rare. The most common mutation is referred to as the ?F508 deletion (” The form of genetic testing used in determining this deletion is known as direct testing, which can be done on just one person, thus eliminating the need to test the entire family at the time.

On the cellular level, cystic fibrosis patients find a “particular cell protein can not do its job and fight off bacterial infection. A genetic error deletes a single amino acid, which is just one of 15-hundred that make up the protein, causing the protein to become misshapen and preventing it from traveling to the cell’s surface to begin its infection fighting work (” Researchers have discovered a gene which makes the protein that “transports chloride ions, one of salt’s two components, in and out of cells. Because the movement of sodium ions, salt’s other component, is naturally linked to the transport of chloride, the protein mutated in cystic fibrosis regulates sodium transport indirectly (Damaris).”

Cystic fibrosis affects the “epithelium, the layer of cells that lines the passages in the body’s organs. Normally, the epithelial cells produce a thin, watery mucus that acts like a lubricant and helps protect the body’s tissues, however in cystic fibrosis suffers, the thick mucus does not move easily, clogging passages in many organs (” Tissues are damaged when the chemical makeup of the mucus needed to protect them is changed, causing blockage in the airways and ducts (

Understanding Sodium and Cystic Fibrosis

The abnormal ion transport system of sodium is thought to attribute to the thick mucus seen in cystic fibrosis sufferers, as well as preventing them from properly removing the mucus from their lungs. Researchers suspect that the “normal protein, called cystic fibrosis transmembrane conductance regulator (CFTR), may also directly or indirectly regulate the passage of various other molecules into and out of cells (Damaris).”

The atypical CFTR protein can not “properly regulate sodium transport by lung cells, allowing the cells to keep drawing in sodium – and water, pulled by osmotic pressure, follows. The liquid layer coating the lungs thins as its water is absorbed by cells, preventing cilia from beating effectively, resulting in mucus clogging the lungs (Damaris).” Cystic fibrosis patients are unable to generate productive coughs due to a reduction in this lubrication.

There are different theories concerning sodium and treatment therapies. One theory suggests that “adding salt to airways will pull water out of cells and increase the depth of the liquid layer that underlies mucus, which would boost a patient’s rearing of mucus. A conflicting older theory suggests that the abnormal chloride channel in cystic fibrosis results in airway-surface fluid loaded with salt (Damaris).”

One study found that “defensins, some of the compounds the body uses to kill off invading microbes, are less effective in salty solutions, and that adding salt could be harmful, while reducing the concentration of salt in airway fluid would help defensins attack infections (Damaris).”

New Theory

There is currently a new theory concerning the pathology of cystic fibrosis. Researchers at the University of New Mexico in Albuquerque suggest a link between “abnormally acidic conditions inside cystic fibrosis lung cells to the ease which bacteria can grow and live inside the respiratory tract. All cells attach sugars to proteins on their surface, and these sugars serve as molecular flags to identify cells. The cystic fibrosis lung cells attach some atypical sugars, which P. aeruginosa and other bacteria can use as footholds while they attack the lung cells (Damaris).”


There is currently no cure for cystic fibrosis, however there are a number of treatments available to patients to help alleviate their suffering and hopefully prolong their lives.

The principal treatments for cystic fibrosis sufferers are “antibiotic therapy for pulmonary exacerbations, and chronic suppressive therapy, airway clearance and exercise, therapy with mucolytic agents, bronchodilators, and anti-inflammatory agents, supplemental oxygen, and nutritional support, which are similar for children and adults. Because of the potential complexity, all aspects of the medical regimen should be reviewed on a regular basis with an assessment of adherence and potential side effects from medications (David).”

While researchers, sufferers and their families all agree that the foremost goal of all research is to find a cure, they stress the importance of providing comforting treatment in the meantime. One new treatment that is currently in a trial phase is the drug – choloroquine. The drug’s primary use has been for the treatment of malaria, with few side effects noted. Researchers are hopeful that the drug, “when inhaled, will lower the acidity of the lungs, thus preventing bacteria from gaining a foothold (Damaris).”

Some drugs used to treat cystic fibrosis, such as steroids, can have adverse side effects such as causing diabetes and osteoporosis. In an effort to reduce these side effects by lowering the medication doses, “researchers have devised a way of encapsulating the drugs inside a patient’s own red blood cells, and since there is no peak of concentration, the patient always has a low but clinically relevant dose that can be one-tenth to one-twentieth the oral dose (unknown).” In a recent study, ten cystic fibrosis patients had blood removed for a clinical trial. The red blood cells were isolated and placed in a “dilute saline solution that makes the cells porous, permitting a synthetic steroid to diffuse into the cells. The steroid-beating cells were then reinjected into their donors (unknown).” When researchers checked the patient’s blood a month later, they found “low but clinically effective concentrations of the drug present (unknown).”

Functioning in the World patient with cystic fibrosis will find it hard to lead a basically normal life. While most people take breathing for granted and never really concentrate on the act, those suffering from cystic fibrosis can find themselves fighting for every breath.

Patients with cystic fibrosis are not able to reproduce like the general population. In 98-99% of men with cystic fibrosis diagnosed prior to adulthood, the abnormalities of the vas deferens render them sterile. While women suffering from the condition have a “normal reproductive anatomy, they are less fertile than women without the disease (David).”

While adults with cystic fibrosis will find there are “few absolute restrictions on choice of employment, present and future physical limitations should be considered (David).”


Cystic fibrosis is a fatal disease with no known cure currently available. The prognosis of the length of survival depends on the “severity of cystic fibrosis, which is determined largely by how much the lungs are affected (”

While “deterioration is inevitable, leading to debility and eventually death, the outlook has improved steadily over the past 25 years, mainly because treatments can now postpone some of the changes that occur in the lungs (” Currently, there is a life expectancy of greater than 28 years in half of all cystic fibrosis sufferers. The “long-term survival rate is somewhat better in males, people who don’t have pancreatic problems, and people whose initial symptoms are restricted to the digestive system. Despite their many problems, people with cystic fibrosis usually attend school or work until shortly before death (”


Cystic fibrosis is a fatal disease which prevents its sufferers from leading completely normal lives due to conditions such as difficulty breathing and failure to adsorb nutrients properly. Researchers are constantly looking for new therapies which can ease symptoms, prolong life, and have hopes of eventually curing this debilitating disease.

Works Cited

Family Guide to Cystic Fibrosis. (accessed 14 July 2004).

Andolsek, Kathryn M. A review of approaches to diagnosis of cystic fibrosis. American Family Physician. (1997): 01 June.

Chromosomal Patterns of Inheritance. (accessed 14 July 2004).

Cystic Fibrosis. (accessed 14 July 2004).

A cystic (accessed 13 July 2004).

Damaris, Christensen. The persistent problem of cystic fibrosis: why are people with this disease plagued by lung infections. Science News. (2002): 26 January.

David, Rodman. Cystic fibrosis adult care*: consensus conference report. Chest.

2004): 01 January.

The Cellular Problem Behind Cystic Fibrosis. (accessed 14 July 2004).

Tsui, Lap-Chee. Cystic fibrosis: genotypic and phenotypic variations. Annual Review of Genetics. (1995): 01 January.

Unknown. Shuttling medicines via blood cells. Science News. (2002): 15 June.

What is Cystic Fibrosis. (accessed 14 July 2004).

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