3.--a. What are the sympioms of the disorder?
belly pain from severe constipation, coughing or increased mucus in the sinuses or lungs, delayed growth, infants may have salty-tasting skin, no bowel movements in the first 24-48 hours of life, stools that are pale or clay colored, foul smelling, or that float recurrent respiratory infections, mass amount of weight loss, or failure to gain weight normally in childhood
b. How is the disorder inherited?
A person gets Cystic Fibrosis when he or she inherits two mutated CFTR genes one from each parent. The presence of two mutant genes is needed for Cystic Fibrosis to appear. Each parent carries one defective gene and one normal gene. The single normal gene is sufficient for normal function of the mucus glands, and the parents are therefore Cystic Fibrosis-free. Each child has a 25 percent risk of inheriting two defective genes and getting Cystic Fibrosis, a 25 percent chance of inheriting two normal genes, and a 50 percent chance of being an unaffected carrier like the parents. The gene that causes cystic fibrosis is recessive.
c. At what age does this disorder first become evident?
CF can be diagnosed at birth, but most often is diagnosed during the early childhood years in young children (by the age of 3 years) who have had a history of respiratory infections, excessive fat in their stools, and who have poor weight gain. Nearly 8 percent of people with CF are diagnosed at 18 years of age or older because they have experienced only mild symptoms of CF. Because one of CF's major symptoms is respiratory infection, a CF diagnosis sometimes may be confused with other respiratory conditions such as asthma, pneumonia, or chronic bronchitis.
d. Is the disorder variably expressed?
The cystic fibrosis transmembrane regulator gene is expressed in the human endocervix throughout the menstrual cycle
e. Can the disorder be detected before birth? How?
Prenatal diagnostic testing involves testing the fetus before birth to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic disorders. Some of these tests, such as ultrasonography and certain blood tests, are often part of routine prenatal care.
f. Can the parents be tested to see if they are carriers? How?
Parents can be tested to see if they are carriers; however, it's not possible to identify every person who carries a gene for cystic fibrosis. Because there are hundreds of specific cystic fibrosis gene mutations; genetic testing for cystic fibrosis is not 100% sensitive.
g. Can the environment be altered to affect the expression of the disorder?
The environment is not a known factor to cystic fibrosis.
4. the cystic fibrosis foundation supports this disorder. http://www.cff.org/GetInvolved/ShopTheMarketplace/
