Cystic Fibrosis: A Genetic Disorder

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CYSTIC FIBROSIS

ONE OUT OF EVERY 2,500 BIRTHS IN THE UNITED STATES WILL BE DIAGNOSED WITH CYSTIC FIBROSIS. THIS FACT MAKES CYSTIC FIBROSIS ONE OF THE MOST COMMON GENETIC DISEASES IN THE NATION. ABOUT 30,000 AMERICANS HAVE THE DISEASE, BUT EVEN THOUGH CYSTIC FIBROSIS IS THE NATIONS MOST COMMON GENETIC DISEASE THE MAJORITY OF AMERICANS KNOW LITTLE ABOUT IT. CYSTIC FIBROSIS IS RELATIVELY COMMON IN CALCASTION PEOPLE BUT RARE IN AFRICAN-AMERICAN. THE DISEASE IS VERY UNCOMMON IN MONGOLIANS. FIVE PERCENT OF THE POPULATION IN THE UNITED STATES ARE CARRIERS OF THE GENETIC DISEASE.

CYSTIC FIBROSIS, SOMETIMES CLASSIFIED AS MUCOVISCIDOSIS, IS A DISORDER IN WHICH THE EXCRORINE GLANDS SECRETE ABNORMALLY THICK MUCUS. THIS LEADS TO THE OBSTRUCTION OF THE PANCREAS AND CHRONIC INFECTIONS OF THE LUNGS, WHICH GENERALLY CAUSES DEATH IN CHILDHOOD OR EARLY ADULTHOOD. SOME MILDLY AFFECTED PATIENTS MAY SURVIVE LONGER. PATIENTS WITH PANCREATIC INSUFFICIENCY TAKE PANCREATIC ENZYMES WITH MEALS. THOSE WITH RESPIRATORY INFECTIONS ARE TREATED WITH ANTIBIOTICS, MOSTLY WITH AEROSOLS THAT RELIEVE CONSTRICTION OF THE AIRWAYS. PHYSICAL THERAPY IS USED TO HELP PATIENTS COUGH UP THE OBSTRUCTING MUCUS. INTESTINAL OBSTRUCTION, WHICH OCCURS MOSTLY IN INFANCY, MAY REQUIRE SURGERY.

IN 1989, RESEARCHERS FOND THE ABNORMAL GENE THAT CAUSES CYSTIC FIBROSIS. THIS GENE IS LOCATED ON CHROMOSOME 7 . A PERSON WHO HAS TWO CYSTIC FIBROSIS GENES HAS THE DISEASE . A PERSON THAT CARRIES ONE OF THE GENES DOES NOT HAVE THE GENETIC DISEASE, BUT IS A CARRIER.

THE SYMPTOMS OF CYSTIC FIBROSIS SOMETIMES OCCUR IMMEDIATELY AFTER BIRTH. MUCUS SECRETIONS MAY APPEAR IN THE BABY'S INTESTINES, WHICH CAN CAUSE OBSTRUCTION IN THE INTESTINES. IN ALL CASES, THE CHILD WILL GAIN LITTLE WEIGHT RIGHT FROM BIRTH, BECAUSE THE PANCREAS IS NOT PRODUCING ENZYMES. LITTLE TO NO NUTRIENTS ARE ABSORBED IN THE CHILD'S SYSTEM. A CHILD WITH CYSTIC FIBROSIS MAY HAVE REOCCURRING RESPIRATORY INFECTIONS, ALONG WITH COUGH AND FEVER. THIS...
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