Cystic Fibrosis Essay

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Cystic Fibrosis

Cystic fibrosis is an autosomal recessive trait on chromosome 7. This

disorder affects chloride transport resulting in abnormal mucus production.

This lifelong illness usually gets more severe with age and can affect both

males and females. Symptoms and severity differ from person to person. Cystic

fibrosis is the most common fatal inherited disease among whites and the major

cause of chronic lung disease in children. 50% of people are expected to live

to be 30, but a majority die before age thirteen. 1:2000 whites have cystic

fibrosis, 1:17000 blacks, 1:6000 live births, 1:2500 Americans, and 1:20 is a

carrier.

The genes are inherited in pairs, with one gene coming from each parent

to make the pair. Cystic fibrosis occurs when both genes have mutations. A

person with cystic fibrosis receives one cystic fibrosis gene from each parent.

The parents of a child, with cystic fibrosis, each carry one nonworking copy of

the gene and one working copy of the gene. The parents are called cystic

fibrosis carriers, and because they have one working gene they have no symptoms.

Carrier parents have 1:4 chance to have a child who is a noncarrier of cystic

fibrosis, a 1:2 chance to have a child who carries the gene, and a 1:4 chance

with each pregnancy to have an affected child. If you have a son or daughter

with cystic fibrosis, then you have a 1:1 chance of being a carrier. If you have

a brother or sister with CF, you have a 2:3 chance of being a carrier. If you

have a niece or nephew with CF, you have a 1:2 chance of being a carrier. If

you have an aunt or uncle with CF, you have a 1:3 chance of being a carrier and

a 1:4 chance if you have a 1st cousin with CF.

Cystic fibrosis affects the lungs in particular. The secretions are

thick and sticky rather than thin and watery. This interferes with the removal

of dust and germs. It can lead to lung infections and even chronic lung damage.

Air passages become clogged with mucus and there is often widespread obstruction

of the bronchioles. Expiration is especially difficult. More and more air

becomes trapped in the lungs, which results in obstructive emphysema.

Atelectasis can occur leaving small areas collapsed. Eventually the chest

assumes a barrel shape. The right ventricle, which supplies the lungs, may

become strained and enlarged. Clubbing of the finger and toes may occur due to

the compensation response indicating the chronic lack of oxygen.

Cystic fibrosis affects the pancreas. The mucus clogs the duct and

blocks the transfer of enzymes from the pancreas to the intestines. These

enzymes are needed to break down food that is necessary for proper growth and

weight gain. The mucus in the digestive tract blocks the absorption of

necessary nutrients. This is why there is often no weight gain despite good

appetites. This can be associated with failure to thrive. The buttocks and

thighs atrophy or waste away due to the fat disappearing from main deposit sites.

People usually have light colored stools. There is also decreased blood

cholesterol due to the poor absorption of fats from the intestine.

Cystic fibrosis can also affect the reproductive systems. Men are

usually sterile due to the mucus blockage or absence of the vas deferens. Women

usually have difficult conceiving, because the mucus interferes with the passage

of sperm.

Cystic fibrosis is usually diagnosed in childhood. Mild cases may not

be detected until adulthood. Common symptoms include chronic cough, wheezing,

cyanosis, difficulty breathing, irritability, excessive mucus production, sinus

infections, nasal polyps, recurrent pneumonia, poor growth, frequent loose foul-

smelling stools, enlarged fingertips, and skin that is salty to the taste. The

sweat test is usually used to detect high levels of salt. More than 60m Eq/L of

chloride in sweat up to age 20 is diagnostic of CF when 1 or more criteria are

present. Levels of 40-60 are highly suggestive. Direct genetic testing or

reverse dot-blot can also be used. Amniocentesis is performed between weeks 15-

22. Chorionic villus sampling (CVS) can be used to take a piece of placental

tissue between weeks 9-12. Labs are also used in diagnosing CF. There is

decreased pancreatic enzymes trypsin, lipase, and amylase. Absence of trypsin

alone is indicative of CF.

One complication of CF is a rare condition known as meconium ileus. The

intestine of the newborn becomes obstructed with abnormally thick meconium due

to the absence of pancreatic enzymes. The intestine can rupture resulting in

shock. Signs and symptoms develop within hours after birth and include absence

of stools, vomiting, and abdominal distention. X-rays are used to confirm this

and surgery is used to correct the problem. The death rate is high including

premature births and most who survive will manifest CF. Nurses in the nursery

must be on guard for early detection. Rectal prolapse occurs in infants and

children due to poor muscle tone in the rectal area and excessive leanness. It

may be related to difficulty passing the frequent bulky stools. Fecal impaction

and intussusception or telescoping of the bowel are other bowel complications in

infants and toddlers. The liver becomes hard, nodular, and enlarged with

progression. There is often edema in the extremities. There may be damage to

the eye as a result from swelling and inflammation of the...

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