Cystic Fibrosis

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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 ...

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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 ...

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