Cystic fibrosis (also known as mucoviscidosis) is a recessive multi-system inherited chronic disease that affects about 70 000 children and adults worldwide. CF is most common among Caucasians. One in 25 Europeans carries one allele for CF. The disease is characterized by abnormal transport of chloride and sodium across epithelium, which leads to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. The mucus also obstructs the pancreas and stops natural enzymes from helping the body absorb food.
The name of the disease refers to the characteristic scarring and cyst formation within the pancreas. It is caused by the mutation in the gene CFTR responsible for the regulation of the components of mucus, sweat, and digestive juices. The symptoms of mucoviscidosis vary from person to person and over time. One of the first signs of cystic fibrosis is salty tasting skin. Most of the other signs and symptoms of cystic fibrosis develop later. They are related to how CF affects the respiratory, digestive, and reproductive systems of the body. Poor growth and poor weight gain despite a normal food intake may be observed.
People with CF tend to have lung infections caused by unusual pathogens that don’t respond to standard antibiotics. For example, lung infections due to mucoid Pseudomonas are much more common in people with CF. Most digestive system signs and symptoms are caused by mucus that blocks tubes, or ducts, in pancreas and prevents enzymes from reaching intestines. Without these enzymes, the intestines have difficulties to absorb nutrients. This can cause ongoing diarrhea or bulky, foul-smelling, greasy stools. Intestinal blockage may also occur, especially in newborns. Too much gas or severe constipation in the intestines may cause stomach pain and discomfort. Males can become infertile due to congenital absence of the vas deferens. Women may have difficulties in getting pregnant, because of mucus blocking her cervix or other complications.
Mucoviscidosis has no cure, but the treatment options have greatly improved recently. The predicted median age of survival for a person with CF is in the late 30s. The treatment goals are to prevent and control lung infections and blockages in digestive system, loosen and remove the mucus from the airways, provide enough nutrition, and prevent dehydration.
QUESTIONS (Choose TRUE or FALSE)
1.Salty tasting skin is one of the hallmarks of cystic fibrosis.
2.The mucus builds up in the airways and increases the risk of infections.
3.People with CF have digestive problems.
4.Mucoviscidosis is curable.
5.Overhydration is one of the CF symptoms.
• cystic fibrosis [ˈsɪstɪk faɪˈbroʊsɪs] – zwłóknienie torbielowate
• mucoviscidosis [myukoʊvɪsɪˈdoʊsɪs] – mukowiscydoza
• epithelium [ɛpəˈθiliəm] – nabłonek
• to clog [tə klɔg] – zapychać
• life-threatening [laɪf ˈθrɛtnɪŋ] – zagrażający życiu
• bulky [ˈbʌlki] – duży, masywny
• to obstruct [tə əbˈstrʌkt] – blokować, tamować
• scarring [ˈskɑrɪŋ] – włóknienie, tworzenie blizn
• mucoid [ˈmyukɔɪd] – śluzowaty
• Pseudomonas [suˈdɒmənəs] – Pseudomonas
• tube [tyub] – kanał, przewód
• duct [dʌkt] – kanał, przewód
• foul-smelling [faʊl smɛlɪŋ] – cuchnący
• greasy [ˈgrisi] – tłusty
• infertile [ɪnˈfɜrtaɪl] – niepłodny
• congenital [kənˈdʒɛnɪtl] – wrodzony
• vas deferens [ˈvæs ˈdɛfərɛnz] – nasieniowód
• cervix [ˈsɜrvɪks] – szyjka macicy
Correct answers: true, true, true, false, false